Find and classify phenotypic correlations for variations in whole genomes

CGI NA07022

Date of birth: 2009-07-14
Male, European

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Highlighting by allele frequency
Rare (f < 0.05)
Minor (0.05 ≤ f < 0.5)
Major (f ≥ 0.5)
Unknown

OMIM (100)

Coordinates
Gene, amino acid change
 Genotype
Trait-associated allele
Associated trait
chr1:9246497
H6PD, R453Q		 G/A
A		 CORTISONE REDUCTASE DEFICIENCY
chr1:65831101
LEPR, Q223R		 A/G
G		 LEPTIN RECEPTOR POLYMORPHISM
chr1:65848540
LEPR, K656N		 G/C
C		 LEPTIN RECEPTOR POLYMORPHISM
chr1:67478546
IL23R, R381Q		 G/A
A		 INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST
chr1:67478546
IL23R, R381Q		 G/A
A		 PSORIASIS, PROTECTION AGAINST, INCLUDED
chr1:180821180
RNASEL, R462Q		 T/T
T		 PROSTATE CANCER, SUSCEPTIBILITY TO
chr1:194925860
CFH, Y402H		 C/T
C		 BASAL LAMINAR DRUSEN, INCLUDED
chr1:194925860
CFH, Y402H		 C/T
C		 MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO
chr1:194925860
CFH, Y402H		 C/T
C		 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED
chr2:138476119
HNMT, T105I		 C/T
T		 ASTHMA, SUSCEPTIBILITY TO
chr2:201857834
CASP8, D302H		 G/C
C		 BREAST CANCER, PROTECTION AGAINST
chr2:230758959
SP110, L425S		 G/G
G		 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
chr2:233848107
ATG16L1, T300A		 A/G
G		 INFLAMMATORY BOWEL DISEASE 10, SUSCEPTIBILITY TO
chr3:10303453
GHRL, Q90L		 T/A
A		 OBESITY, SUSCEPTIBILITY TO
chr3:10306457
GHRL, L72M		 G/T
T		 METABOLIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr3:10306457
GHRL, L72M		 G/T
T		 OBESITY, AGE AT ONSET OF
chr3:46374212
CCR2, V64I		 A/A
A		 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
chr3:123486447
CASR, A986S		 G/T
T		 CALCIUM, SERUM LEVEL OF
chr3:134958502
TF, G277S		 A/A
A		 IRON DEFICIENCY ANEMIA, SUSCEPTIBILITY TO
chr4:2876505
ADD1, G460W		 G/T
T		 HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO
chr4:38475043
TLR1, I602S		 C/A
C		 LEPROSY, PROTECTION AGAINST
chr4:40954390
UCHL1, S18Y		 C/A
A		 PARKINSON DISEASE, RESISTANCE TO
chr5:7923973
MTRR, I22M		 A/G
G		 DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr5:7923973
MTRR, I22M		 A/G
G		 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO
chr5:131704219
SLC22A4, L503F		 C/T
T		 SLC22A4 POLYMORPHISM
chr5:176452849
FGFR4, G388R		 G/A
A		 CANCER PROGRESSION AND TUMOR CELL MOTILITY
chr6:12404241
EDN1, K198N		 G/T
T		 7
chr6:12404241
EDN1, K198N		 G/T
T		 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
chr6:16398740
GMPR, F256I		 T/A
A		 GMP REDUCTASE POLYMORPHISM
chr6:32908390
TAP2, I379V		 C/T
C		 PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
chr6:160033862
SOD2, A16V		 A/G
A		 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6, INCLUDED
chr6:160033862
SOD2, A16V		 A/G
A		 SUPEROXIDE DISMUTASE 2 POLYMORPHISM
chr7:34784638
NPSR1, N107I		 T/T
T		 ASTHMA SUSCEPTIBILITY 2
chr7:94775382
PON1, Q192R		 C/C
C		 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr7:94775382
PON1, Q192R		 C/C
C		 CORONARY ARTERY SPASM, SUSCEPTIBILITY TO, INCLUDED
chr7:94775382
PON1, Q192R		 C/C
C		 PON1 ENZYME ACTIVITY, VARIATION IN
chr7:116986769
CFTR, M470V		 G/A
G		 CFTR POLYMORPHISM
chr7:141319073
TAS2R38, I296V		 T/C
C		 PHENYLTHIOCARBAMIDE TASTING
chr7:141319174
TAS2R38, V262A		 G/A
G		 PHENYLTHIOCARBAMIDE TASTING
chr7:141319814
TAS2R38, A49P		 C/G
G		 PHENYLTHIOCARBAMIDE TASTING
chr7:150327044
NOS3, E298D		 T/G
T		 ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED
chr7:150327044
NOS3, E298D		 T/G
T		 CORONARY SPASM, SUSCEPTIBILITY TO
chr7:150327044
NOS3, E298D		 T/G
T		 HYPERTENSION, PREGNANCY-INDUCED, SUSCEPTIBILITY TO, INCLUDED
chr7:150327044
NOS3, E298D		 T/G
T		 HYPERTENSION, RESISTANT TO CONVENTIONAL THERAPY, INCLUDED
chr7:150327044
NOS3, E298D		 T/G
T		 ISCHEMIC HEART DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr7:150327044
NOS3, E298D		 T/G
T		 ISCHEMIC STROKE, SUSCEPTIBILITY TO, INCLUDED
chr8:18302383
NAT2, R197Q		 A/A
A		 ACETYLATION, SLOW
chr8:55701948
RP1, N985Y		 A/T
T		 HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr8:133969434
TG, S734A		 T/G
G		 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
chr9:106660688
ABCA1, R219K		 C/T
T		 CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST
chr9:107406320
FKTN, G125S		 G/A
A		 WALKER-WARBURG SYNDROME
chr10:54201241
MBL2, G54D		 C/T
T		 GESTATIONAL DIABETES MELLITUS, SUSCEPTIBILITY TO, INCLUDED
chr10:54201241
MBL2, G54D		 C/T
T		 MANNOSE-BINDING PROTEIN DEFICIENCY
chr10:70311866
STOX1, Y153H		 T/C
C		 PREECLAMPSIA/ECLAMPSIA 4
chr10:70315382
STOX1, E608D		 A/C
C		 PREECLAMPSIA/ECLAMPSIA 4
chr10:115794026
ADRB1, S49G		 A/G
G		 RESTING HEART RATE
chr11:17366148
KCNJ11, E23K		 T/C
T		 DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr11:27636492
BDNF, V66M		 C/T
T		 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11:27636492
BDNF, V66M		 C/T
T		 BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO, INCLUDED
chr11:27636492
BDNF, V66M		 C/T
T		 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2, INCLUDED
chr11:27636492
BDNF, V66M		 C/T
T		 MEMORY IMPAIRMENT, SUSCEPTIBILITY TO
chr11:27636492
BDNF, V66M		 C/T
T		 OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST, INCLUDED
chr11:27636492
BDNF, V66M		 C/T
T		 PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO, INCLUDED
chr11:66050228
BBS1, M390R		 T/G
G		 BARDET-BIEDL SYNDROME 1
chr11:68611939
TPCN2, G734E		 G/A
A		 SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
chr11:88551344
TYR, S192Y		 C/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
chr11:88551344
TYR, S192Y		 C/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
chr12:111833253
OAS1, S162G		 G/A
G		 DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO
chr12:120779718
HPD, A33T		 T/C
T		 HAWKINSINURIA
chr13:31804729
BRCA2, N372H		 A/C
C		 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
chr13:107661592
LIG4, T9I		 G/A
A		 MULTIPLE MYELOMA, RESISTANCE TO
chr14:103235506
XRCC3, T241M		 G/A
A		 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
chr15:63281265
CILP, I395T		 G/G
G		 LUMBAR DISC DISEASE, SUSCEPTIBILITY TO
chr15:72006599
LOXL1, R141L		 G/T
T		 EXFOLIATION SYNDROME, SUSCEPTIBILITY TO
chr15:78259581
FAH, R341W		 C/T
T		 FUMARYLACETOACETASE PSEUDODEFICIENCY
chr16:27281681
IL4R, S503P		 T/C
C		 ASTHMA, SUSCEPTIBILITY TO
chr16:27281681
IL4R, S503P		 T/C
C		 ATOPY, RESISTANCE TO
chr16:27281901
IL4R, Q576R		 A/G
G		 ATOPY, SUSCEPTIBILITY TO
chr16:49303427
NOD2, R702W		 C/T
T		 INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
chr16:49314041
NOD2, G908R		 G/C
C		 INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
chr16:88513618
MC1R, R151C		 C/T
T		 ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC, INCLUDED
chr16:88513618
MC1R, R151C		 C/T
T		 OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, INCLUDED
chr16:88513618
MC1R, R151C		 C/T
T		 SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
chr17:5426091
NLRP1, L155H		 T/T
T		 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
chr17:7520197
TP53, P72R		 G/C
C		 CODON 72 POLYMORPHISM
chr17:7847244
GUCY2D, A52S		 G/T
T		 LEBER CONGENITAL AMAUROSIS, TYPE I
chr17:19753133
AKAP10, I646V		 T/C
C		 CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
chr17:25600202
BLMH, I443V		 T/C
C		 BLEOMYCIN HYDROLASE POLYMORPHISM
chr17:35133114
ERBB2, V655I		 A/G
A		 ERBB2 POLYMORPHISM
chr17:45792455
XYLT2, T801R		 G/G
G		 PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
chr17:59804699
PECAM1, L125V		 G/C
C		 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
chr18:9107867
NDUFV2, A29V		 T/C
T		 PARKINSON DISEASE, SUSCEPTIBILITY TO
chr19:6664262
C3, L314P		 G/A
G		 C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE
chr19:6669387
C3, R102G		 G/C
C		 C3S/C3F POLYMORPHISM
chr19:6669387
C3, R102G		 G/C
C		 MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
chr19:50007285
BCAM, H77R		 G/A
G		 LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)
chr20:44073632
MMP9, Q279R		 A/G
G		 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
chr20:54394948
AURKA, F31I		 A/T
T		 COLON CANCER, SUSCEPTIBILITY TO
chr22:29341610
TCN2, P259R		 G/C
G		 TCN2 POLYMORPHISM
chrX:119644657
C1GALT1C1, D131E		 T
T		 Tn SYNDROME

SNPedia (359)

Coordinates
Function
 Genotype
Associated trait
chr1:11826663
(Not computed)		 C/T lower blood pressure
chr1:11828568
(Not computed)		 A/G 0.5x reduced risk for asthma
chr1:11833264
(Not computed)		 A/G lower blood pressure
chr1:12185379
(Not computed)		 A/G slightly higher fat mass
chr1:16312979
(Not computed)		 T/T ~2x increased risk for cataracts
chr1:17535226
(Not computed)		 C/T increased risk for RA
chr1:25124510
(Not computed)		 A/T increased risk for bladder cancer if part of risk haplotype
chr1:26393727
(Not computed)		 A/G 0.46cm taller on average
chr1:59475385
(Not computed)		 C/T 1.2x increased risk for ALS
chr1:59476570
(Not computed)		 A/G 1.2x increased risk for ALS
chr1:65848540
(Not computed)		 C/G less likely to gain weight if taking risperidone
chr1:66503301
(Not computed)		 C/G 1.08x risk (multiple sclerosis)
chr1:67454257
(Not computed)		 G/G 0.65x reduced risk for Crohn's disease
chr1:67460937
(Not computed)		 C/C 0.83x lower risk for spondylitis
chr1:67475114
(Not computed)		 G/T 0.68x lower risk for spondylitis
chr1:67478546
(Not computed)		 A/G 0.26x lower risk for certain autoimmune diseases
chr1:67491717
(Not computed)		 A/A 0.8x lower risk for spondylitis
chr1:92893695
(Not computed)		 C/G 1.11x risk (multiple sclerosis)
chr1:92949466
(Not computed)		 A/T 1.11x risk (multiple sclerosis)
chr1:93076191
(Not computed)		 C/T 1.15x risk (multiple sclerosis)
chr1:93121634
(Not computed)		 A/G 1.12x risk (multiple sclerosis)
chr1:93167966
(Not computed)		 C/T 1.11x risk (multiple sclerosis)
chr1:103126726
(Not computed)		 A/G 1.4x risk for LDH
chr1:109623689
(Not computed)		 A/G 1.29x increased risk for heart disease
chr1:152666639
(Not computed)		 G/T 1.7x increased melanoma risk
chr1:157525169
(Not computed)		 A/G lower IgE levels
chr1:157538684
(Not computed)		 C/T lower IgE levels
chr1:159074339
(Not computed)		 C/T 1.37x increased risk for rheumatoid arthritis
chr1:159075627
(Not computed)		 A/G 1.34x increased risk for rheumatoid arthritis
chr1:159781166
(Not computed)		 A/C complex; generally greater risk for cancer progression
chr1:160352309
(Not computed)		 T/T Shorter QT interval
chr1:171165025
(Not computed)		 A/G 1.2x risk of Crohn's disease
chr1:180821180
(Not computed)		 T/T 2x increased prostate cancer risk
chr1:180822659
(Not computed)		 G/G 1.5x increased risk for breast cancer, HNSCC
chr1:184916944
(Not computed)		 G/G 30% higher risk of diabetes
chr1:194925860
(Not computed)		 C/T 2.5x risk for AMD; higher mortality among nonagenarians
chr1:201176597
(Not computed)		 C/G 0.59x decreased breast cancer risk
chr1:205013257
(Not computed)		 G/G 0.5x decreased risk for endometriosis
chr1:237503165
(Not computed)		 T/T 1.1x risk (high blood pressure)
chr1:238512219
(Not computed)		 C/T 0.7x risk (heart disease)
chr2:21085700
(Not computed)		 A/G elevated lipids
chr2:21113117
(Not computed)		 A/G increased risk in men for biliary conditions
chr2:27594741
(Not computed)		 C/T metabolic consequences
chr2:37229795
(Not computed)		 A/G 1.24x increased risk for Alzheimer's
chr2:66611926
(Not computed)		 A/G haplotype at risk for restless legs
chr2:66617812
(Not computed)		 G/G >1.7x risk for restless legs
chr2:66634957
(Not computed)		 G/G >1.7x risk for restless legs
chr2:70828398
(Not computed)		 G/T 1.3x risk for hypertension
chr2:85747252
(Not computed)		 A/A if sclerotic, reduced risk of lung disease
chr2:104349699
(Not computed)		 A/G 1.2x risk (bipolar disorder)
chr2:113603678
(Not computed)		 C/T 0.29x lower risk for periodontitis
chr2:115957656
(Not computed)		 A/G 1.3x risk (bipolar disorder)
chr2:136325116
(Not computed)		 A/A can digest milk
chr2:160922421
(Not computed)		 C/T 1.5x risk (type-2 diabetes)
chr2:168749632
(Not computed)		 G/T slightly higher blood pressure if Caucasian
chr2:169538574
(Not computed)		 G/G 2.8x higher risk for intrahepatic cholestasis of pregnancy
chr2:198339959
(Not computed)		 A/G ~1.18x increased risk of aneurysm
chr2:204447164
(Not computed)		 A/G increased risk for auto-immune diseases
chr2:216680977
(Not computed)		 G/T slightly increased risk of bladder cancer
chr2:233823578
(Not computed)		 C/T 1.2x risk (Crohn's disease)
chr2:233848107
(Not computed)		 A/G 1.4x increased risk for Crohn's disease in Caucasians
chr2:241164269
(Not computed)		 C/C 2.1x risk (bipolar disorder)
chr3:9773773
(Not computed)		 C/G normal for bladder cancer risk; 1.9x increased risk for gallbladder cancer
chr3:15191433
(Not computed)		 C/T 1.45x increased osteoarthritis risk (osteoarthritis)
chr3:15191707
(Not computed)		 A/T 1.43x increased osteoarthritis risk (osteoarthritis)
chr3:15202256
(Not computed)		 C/T 1.45x increased osteoarthritis risk (osteoarthritis)
chr3:28679467
(Not computed)		 G/G Homozygous major
chr3:49676987
(Not computed)		 A/G 1.1x risk (Crohn's disease)
chr3:49841396
(Not computed)		 C/T 0.77x risk for Crohn's disease
chr3:55288440
(Not computed)		 C/C 1.8x risk of type-2 diabetes
chr3:56784668
(Not computed)		 A/G increased osteoporosis risk
chr3:109630418
(Not computed)		 C/T increased risk of coronary heart disease; better response to statins
chr3:121295972
(Not computed)		 A/G later onset of BP
chr3:143764302
(Not computed)		 A/G poorer response to pancreatic cancer combined treatment
chr3:149942678
(Not computed)		 A/C ~1.4x increased risk of hypertension
chr3:186994381
(Not computed)		 G/T 1.2x increased risk for type-2 diabetes
chr3:187011774
(Not computed)		 A/C 1.2x increased risk for type-2 diabetes
chr3:187813156
(Not computed)		 G/T 0.91x decreased risk for T2D
chr3:191128627
(Not computed)		 C/T 1.2x increased bladder cancer risk
chr4:2876505
(Not computed)		 G/T 1.8x increased risk for high blood pressure
chr4:9603313
(Not computed)		 T/T ~4x higher risk for hyperuracemia
chr4:12619085
(Not computed)		 G/G 1.41x risk for breast cancer
chr4:23424760
(Not computed)		 T/T higher blood pressure if <50
chr4:24405901
(Not computed)		 C/T ~1.5x increased brain tumor risk
chr4:38442115
(Not computed)		 C/T 1.1x increased risk for Non-hodgkin's lymphoma
chr4:38491897
(Not computed)		 A/C 0.75x decreased risk for Non-hodgkin's lymphoma
chr4:56837794
(Not computed)		 C/T somewhat higher risk for prostate cancer
chr4:100458342
(Not computed)		 C/C normal; more frequent alcohol consumption
chr4:100568692
(Not computed)		 C/G 0.68x decreased risk of oral/throat cancers
chr4:103663504
(Not computed)		 C/T 2x increased risk for Hodgkin lymphoma
chr4:111053559
(Not computed)		 A/G 3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk
chr4:111929618
(Not computed)		 C/T 1.4x increased risk of atrial fibrillation and ischemic stroke
chr4:111940210
(Not computed)		 G/G 1.4x increased risk of atrial fibrillation and ischemic stroke
chr4:122884964
(Not computed)		 C/T 1.4x risk (type-2 diabetes)
chr4:123548812
(Not computed)		 A/G 1.3x risk (type-1 diabetes)
chr4:148683290
(Not computed)		 C/G 1.19x risk for hypertension
chr4:154844859
(Not computed)		 C/T somewhat increased risk for type-1 diabetes and allergic asthma
chr4:164476185
(Not computed)		 G/G more likely to gain weight if taking risperidone
chr4:169914061
(Not computed)		 A/G increased risk of coronary heart disease; better response to statins
chr5:1375087
(Not computed)		 C/T ~1.2x increased risk for several types of cancer
chr5:33987450
(Not computed)		 G/G generally European
chr5:35912031
(Not computed)		 G/G >1.1x risk (type-1 diabetes)
chr5:40450824
(Not computed)		 T/T increased risk for Crohn's disease
chr5:59538277
(Not computed)		 A/G 1.5x increased stroke risk
chr5:76554198
(Not computed)		 A/G 0.13 muIU/ml higher TSH
chr5:96144608
(Not computed)		 C/G 1.4x higher risk for spondylitis
chr5:96144622
(Not computed)		 C/T 0.76x lower risk for spondylitis
chr5:96147966
(Not computed)		 C/T 0.71x lower risk for spondylitis
chr5:96150086
(Not computed)		 C/T 1.4x higher risk for spondylitis
chr5:96155291
(Not computed)		 C/T 0.71x lower risk for spondylitis
chr5:99976881
(Not computed)		 T/T 1.9x risk (heart disease)
chr5:126711708
(Not computed)		 A/G somewhat increased risk for schizophrenia
chr5:131704219
(Not computed)		 C/T 2.1x increased risk of Crohn's disease
chr5:131770127
(Not computed)		 C/G 1.5x risk (Crohn's disease)
chr5:132037053
(Not computed)		 C/T 0.6x decreased risk for myocardial infarction if younger than 50
chr5:132656783
(Not computed)		 C/C 1.1x risk (type-1 diabetes)
chr5:141007068
(Not computed)		 C/T somewhat higher risk for prostate cancer
chr5:167778369
(Not computed)		 C/T increased memory performance
chr5:172596060
(Not computed)		 C/T 1.7x increased risk for SLE (lupus)
chr6:6528720
(Not computed)		 A/G increased risk
chr6:6533880
(Not computed)		 A/C increased risk
chr6:20836710
(Not computed)		 C/C 1.9x risk (Crohn's disease)
chr6:22233943
(Not computed)		 C/T possible increased risk for neuroblastoma
chr6:22239908
(Not computed)		 A/C possible increased risk for neuroblastoma
chr6:22247983
(Not computed)		 G/G 2x increased risk for neuroblastoma
chr6:24740621
(Not computed)		 C/C higher risk for dyslexia
chr6:24767050
(Not computed)		 G/G > 2x risk of dyslexia and poor reading performance
chr6:25978521
(Not computed)		 A/T 0.85x decreased gout risk
chr6:31248026
(Not computed)		 A/G ~5x increased risk of psoriasis
chr6:31263764
(Not computed)		 C/G ~5x increased risk for psoriasis among Chinese
chr6:31651010
(Not computed)		 A/G complex; generally higher risk for certain diseases
chr6:32036778
(Not computed)		 C/T 2.0x risk for lupus
chr6:32471794
(Not computed)		 C/T increased risk for sarcoidosis
chr6:32685358
(Not computed)		 A/G possibly at 4x higher risk of [[rheumatoid arthritis]]
chr6:32712350
(Not computed)		 A/A 18.5x risk type-1 diabetes
chr6:32771829
(Not computed)		 C/T 2.3x risk of rheumatoid arthritis
chr6:32908390
(Not computed)		 C/T carrier
chr6:35656214
(Not computed)		 A/A 0.63x decreased risk for bipolar disorder
chr6:35722004
(Not computed)		 C/T 0.69x decreased risk for bipolar disorder
chr6:43844367
(Not computed)		 A/C 1.36x increased risk for thyroid cancer in men
chr6:43845808
(Not computed)		 A/G 3x risk
chr6:55250296
(Not computed)		 G/G 2-6x increased risk for cluster headaches
chr6:88910354
(Not computed)		 C/T more resistant to treatment for depression
chr6:96161656
(Not computed)		 A/A increased risk of cocaine induced paranoia.
chr6:105485647
(Not computed)		 T/T age at menarche ~2 months later on average
chr6:132314950
(Not computed)		 C/G ~normal risk
chr6:134530653
(Not computed)		 G/T slightly decreased risk for type-2 diabetes
chr6:138048197
(Not computed)		 A/G 1.2x risk (rheumatoid arthritis)
chr6:138126941
(Not computed)		 C/T 1.2x risk (Crohn's disease)
chr6:149763383
(Not computed)		 A/A MET/MET increased [[diabetes]] susceptibility
chr6:151990059
(Not computed)		 A/G 1.4x increased breast cancer risk
chr6:152160812
(Not computed)		 G/T increased risk for pregnancy-induced hypertension
chr6:152312365
(Not computed)		 C/T 0.64x reduced lymphoma risk
chr6:152338793
(Not computed)		 G/G If male, 1-2cm taller on average
chr6:161921426
(Not computed)		 C/T intermediate lysine values
chr7:22733170
(Not computed)		 C/G complex; see details
chr7:94775382
(Not computed)		 C/C higher risk of coronary heart disease in some studies; significantly reduced PON catalytic efficiency; increased trait-anxiety scores
chr7:94791831
(Not computed)		 A/G intermediate arylesterase activity
chr7:94791885
(Not computed)		 C/C less likely to gain weight if taking risperidone
chr7:116099675
(Not computed)		 C/G 1.6x increased autism risk
chr7:116986769
(Not computed)		 A/G 1.1x risk (type-1 diabetes)
chr7:128356196
(Not computed)		 A/C 0.9x decreased rheumatoid arthritis risk
chr7:128381419
(Not computed)		 C/T 2x increased risk of SLE
chr7:128381961
(Not computed)		 T/T 1.4x increased risk of SLE
chr7:136339536
(Not computed)		 A/G somewhat higher IQ
chr7:136344201
(Not computed)		 A/T somewhat higher IQ
chr7:141319073
(Not computed)		 C/T can taste bitter
chr7:141319174
(Not computed)		 A/G can taste bitter
chr7:141319814
(Not computed)		 C/G can taste bitter
chr7:146120539
(Not computed)		 A/T slightly increased risk for autism
chr7:147157839
(Not computed)		 T/T risk of speech development delay and/or impairment
chr7:147185740
(Not computed)		 T/T higher risk of speech development delay and/or impairment
chr7:147205323
(Not computed)		 G/G higher risk of speech development delay and/or impairment
chr7:147207344
(Not computed)		 T/T higher risk of speech development delay and/or impairment
chr7:147210552
(Not computed)		 C/C higher risk of speech development delay and/or impairment
chr7:147213238
(Not computed)		 G/G higher risk for speech development delay and/or impairment
chr7:147216752
(Not computed)		 C/C higher risk for speech development delay and/or impairment
chr7:147232705
(Not computed)		 A/A higher risk of speech development delay and/or impairment
chr7:147888981
(Not computed)		 C/G 1.3x risk (Crohn's disease)
chr7:150321012
(Not computed)		 T/T increased cardiovascular risk
chr7:150327044
(Not computed)		 G/T increased risk of preeclampsia
chr7:153836827
(Not computed)		 C/T 1.3x risk for ALS
chr7:153841731
(Not computed)		 C/T 1.2x risk for ALS
chr8:6722809
(Not computed)		 C/T 2.4x increased risk for one form of Crohn's disease
chr8:55489644
(Not computed)		 A/G 1.37x increased aneurysm risk
chr8:128081119
(Not computed)		 C/T 1.7x increased risk for prostate cancer
chr8:128787250
(Not computed)		 G/T 1.2x increased bladder cancer risk
chr8:130015336
(Not computed)		 A/C 2.5x increased risk for cleft lip
chr8:140249206
(Not computed)		 G/T 1.2x higher risk for hypertension
chr9:6355683
(Not computed)		 A/C 1.5x increased risk for colorectal cancer
chr9:21807754
(Not computed)		 A/G 1.26x increased myocardial infarction risk
chr9:21964218
(Not computed)		 G/G 0.9x lower risk for breast cancer
chr9:21993367
(Not computed)		 A/G 0.71x reduced myocardial infarction risk
chr9:22073404
(Not computed)		 C/T 1.24x increased myocardial infarction risk, 1.29x increased aneurysm risk
chr9:22078260
(Not computed)		 C/T 1.30x increased risk for Coronary artery disease
chr9:22086055
(Not computed)		 A/G ~1.2x increased risk for heart disease
chr9:22105026
(Not computed)		 A/G 1.4x increased risk for heart disease
chr9:22105959
(Not computed)		 A/G increased risk for heart disease
chr9:22114477
(Not computed)		 A/G 1.3x risk for MI
chr9:22115347
(Not computed)		 A/C 1.3x increased coronary artery disease risk
chr9:22115503
(Not computed)		 C/G 1.5x increased risk for CAD
chr9:99595930
(Not computed)		 A/G 1.7x increased thyroid cancer risk
chr9:116300655
(Not computed)		 C/T 1.3x risk (bipolar disorder)
chr9:121024374
(Not computed)		 A/G 1.17x risk (multiple sclerosis)
chr9:122680321
(Not computed)		 C/T 1.3x increased risk for rheumatoid arthritis
chr9:122730060
(Not computed)		 A/G 1.3x risk
chr9:122744908
(Not computed)		 A/G 1.4x increased risk for rheumatoid arthritis
chr9:136465643
(Not computed)		 C/T decreased risk of Alzheimer's disease
chr10:42926693
(Not computed)		 A/G 10% smaller kidneys as newborns
chr10:44073873
(Not computed)		 C/T 1.3x increased risk for heart disease
chr10:50486949
(Not computed)		 C/T some positive effect of AChE inhibitors for Alzheimer's patients
chr10:64115570
(Not computed)		 G/G 1.5x risk (Crohn's disease)
chr10:69313348
(Not computed)		 C/C average/normal
chr10:70122477
(Not computed)		 T/T 1.29x increased risk for LOAD
chr10:81916682
(Not computed)		 A/G 0.62x reduced risk for sarcoidosis
chr10:94452862
(Not computed)		 C/T 1.3x risk of [[type-2 diabetes]]
chr10:94471897
(Not computed)		 A/G 1.6x risk for T2D
chr10:101594197
(Not computed)		 C/T 1.6x risk for ICP
chr10:114746031
(Not computed)		 A/T 1.4x increased risk for type-2 diabetes
chr10:114748339
(Not computed)		 C/T 1.4x increased risk for diabetes (and perhaps colon cancer)
chr10:114798892
(Not computed)		 G/T 1.3x increased type-2 diabetes risk
chr10:115794026
(Not computed)		 A/G lower extraversion?
chr10:115795046
(Not computed)		 C/C responds well to bucindolol; may also depend on [[rs1801252]]
chr10:123323987
(Not computed)		 C/T 1.20x increased breast cancer risk
chr10:123324920
(Not computed)		 A/G 1.20x risk for breast cancer
chr10:123327325
(Not computed)		 A/G 1.20x risk for breast cancer
chr10:123330301
(Not computed)		 C/T 1.20x increased breast cancer risk
chr10:123336180
(Not computed)		 A/G 1.20x risk for breast cancer
chr10:123341314
(Not computed)		 C/T 1.20x risk for breast cancer
chr10:123342307
(Not computed)		 A/G 1.3x higher risk of ER+ breast cancer
chr10:124145371
(Not computed)		 C/T 2.6x risk for AMD
chr10:124204438
(Not computed)		 G/T 2.7x risk for age related macular degeneration
chr10:124210534
(Not computed)		 A/G ~2x increased risk of [[age related macular degeneration]]
chr10:131455160
(Not computed)		 A/G 0.67x decreased risk for lung cancer
chr11:736992
(Not computed)		 C/T 0.57x reduced risk of squamous cell carcinoma of the head and neck
chr11:8068116
(Not computed)		 C/T higher body mass index
chr11:17366148
(Not computed)		 C/T 1.3x increased risk for type-2 diabetes
chr11:20655505
(Not computed)		 G/G increased risk for Crohn's disease
chr11:27636492
(Not computed)		 C/T modulates Alzheimer's risk
chr11:34416807
(Not computed)		 C/T 0.6x decreased acoustic neuroma risk
chr11:57134901
(Not computed)		 C/T 0.63x decreased age-related macular degeneration risk
chr11:65161876
(Not computed)		 A/A 2.15x more likely positive lymph node
chr11:77670615
(Not computed)		 A/G 0.70x reduced risk for Alzheimer's risk
chr11:92348358
(Not computed)		 C/G increased type-2 diabetes risk
chr11:100438622
(Not computed)		 A/C 1.26x risk for ovarian cancer
chr11:107730871
(Not computed)		 A/G 1.6x increased risk of lung cancer
chr11:110676919
(Not computed)		 A/C 1.17x increased risk of colorectal cancer
chr11:130255852
(Not computed)		 C/C increased risk of coronary heart disease; better response to statins
chr12:6825136
(Not computed)		 C/T (some risk; see details)
chr12:10416632
(Not computed)		 C/C 0.48x reduced risk for colorectal cancer
chr12:20936961
(Not computed)		 A/G 63% chance (higher than average) of docetaxel-induced leukopenia/neutropenia
chr12:46541837
(Not computed)		 A/A 2.47x higher risk for prostate cancer
chr12:54756892
(Not computed)		 C/T 1.3x risk (type-1 diabetes)
chr12:54768447
(Not computed)		 G/T 1.3x risk (type-1 diabetes)
chr12:64644614
(Not computed)		 T/T average height
chr12:69863368
(Not computed)		 C/G 1.3x risk (type-2 diabetes)
chr12:70659129
(Not computed)		 A/G risk of suicide behavior
chr12:87477457
(Not computed)		 T/T >3x increased testicular cancer risk for men
chr12:87478090
(Not computed)		 A/A >3x increased testicular cancer risk for men
chr12:100566344
(Not computed)		 C/G 1.3x risk (high blood pressure)
chr12:107168319
(Not computed)		 C/T higher risk for hypertension
chr12:123886803
(Not computed)		 C/T more likely to gain weight if taking olanzapine
chr13:30210096
(Not computed)		 A/T 1.24x increased stroke risk for males
chr13:31804729
(Not computed)		 A/C possible increased risk for breast cancer
chr13:32494189
(Not computed)		 A/G 1.7x risk for priapism in SCA patients
chr13:46309986
(Not computed)		 G/G ~18% less likely to respond to citalopram
chr13:50722329
(Not computed)		 G/G somewhat higher risk for prostate cancer
chr13:66933372
(Not computed)		 A/G 1.3x risk (high blood pressure)
chr14:22072524
(Not computed)		 G/T 1.94x increased risk for narcolepsy
chr14:60168436
(Not computed)		 C/C 0.63x reduced risk for intracranial aneurysm
chr14:63831670
(Not computed)		 A/C 1.65x increased risk only in men for myocardial infarction
chr15:26012308
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:26030454
(Not computed)		 T/T blue eye color
chr15:26032853
(Not computed)		 A/A blue eye color if part of blue eye color haplotype
chr15:26039213
(Not computed)		 G/G blue eye color, 99% of the time
chr15:26047607
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:26101581
(Not computed)		 A/A blue eye color if part of blue eye color haplotype
chr15:26175874
(Not computed)		 G/G blue eye color if part of blue eye color haplotype
chr15:26186959
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:30183749
(Not computed)		 C/T in ALZ patients, increased risk of delusions
chr15:56461987
(Not computed)		 C/G intermediate phosphatidylethanolamine values
chr15:63281265
(Not computed)		 G/G higher risk of LDD
chr15:65245693
(Not computed)		 C/T 1.26x increased risk for heart disease
chr15:65823906
(Not computed)		 A/G 0.71x risk for restless legs
chr15:65824632
(Not computed)		 A/G 0.70x risk for restless legs
chr15:65841442
(Not computed)		 A/G 0.69x risk for restless legs
chr15:65859129
(Not computed)		 G/T 0.69x risk for restless legs
chr15:65859329
(Not computed)		 C/T 0.71x risk for restless legs
chr15:65882139
(Not computed)		 A/G 0.70x risk for restless legs
chr15:65890260
(Not computed)		 C/G 0.71x risk for restless legs
chr15:72006599
(Not computed)		 G/T higher glaucoma risk
chr15:72009255
(Not computed)		 C/T 4.4x increased risk of exfoliation glaucoma
chr15:72391887
(Not computed)		 A/G 1.3x risk (type-2 diabetes)
chr15:72828970
(Not computed)		 A/C carrier of one CYP1A2*1F allele; smaller breasts among females drinking 3+ coffees/day?
chr15:72834479
(Not computed)		 C/T carrier of one CYP1A2_1545T>C allele
chr15:78200439
(Not computed)		 G/G 1.47x risk (type-2 diabetes)
chr16:49297083
(Not computed)		 G/G 1.9x risk (Crohn's disease)
chr16:49314382
(Not computed)		 G/G 1.7x increased risk for Crohn's disease
chr16:52358455
(Not computed)		 C/T ~1.3x increased obesity risk
chr16:52366748
(Not computed)		 A/G 1.67x risk for obesity
chr16:52370868
(Not computed)		 G/T ~1.3x increased obesity risk
chr16:52378028
(Not computed)		 A/T 1.3x risk for T2D; obesity risk (type-2 diabetes)
chr16:52387966
(Not computed)		 A/G unknown
chr16:55548864
(Not computed)		 C/T lower HDL cholesterol
chr16:67328535
(Not computed)		 A/C 1.5-1.7x increased risk of prostate cancer
chr16:88333478
(Not computed)		 A/G 1.08x increased risk for breast cancer
chr16:88513618
(Not computed)		 C/T increased response to anesthetics
chr17:1620026
(Not computed)		 T/T 3.9x increased risk of wet ARMD
chr17:5459730
(Not computed)		 G/G 2.74x
chr17:25468309
(Not computed)		 A/C 0.58x decreased risk for esophageal cancer
chr17:25562658
(Not computed)		 C/T 1.7x increased risk for anxiety disorders
chr17:35323475
(Not computed)		 C/T 1.5x increased risk for asthma
chr17:41375573
(Not computed)		 G/G may be part of gs124
chr17:53713761
(Not computed)		 C/T 0.8x decreased risk for lung cancer among smokers; increased gastric cancer risk (lupus)
chr18:12769947
(Not computed)		 G/T 1.3x risk for Crohn's; 1.3x for T1D
chr18:44707927
(Not computed)		 T/T 1.37x increased risk for colorectal cancer
chr18:44713030
(Not computed)		 C/T 1.10x increased risk for colorectal cancer
chr18:56002077
(Not computed)		 C/T adults likely to be 0.22 BMI units higher
chr18:56002743
(Not computed)		 A/G adults likely to be 0.22 BMI units higher
chr18:56190256
(Not computed)		 C/T lower risk of metabolic syndrome
chr19:6669387
(Not computed)		 C/G 1.6x risk of ARMD
chr19:7245505
(Not computed)		 T/T reduced colorectal risk
chr19:9186116
(Not computed)		 A/G "sweet" smeller
chr19:10336652
(Not computed)		 A/C 1.6x increased risk for SLE
chr19:34756236
(Not computed)		 G/G 1.4x risk (heart disease)
chr19:46552136
(Not computed)		 G/G higher risk for COPD
chr19:46561596
(Not computed)		 T/T higher risk for COPD
chr19:48747566
(Not computed)		 C/T 2x higher risk for skin cancer
chr19:50103781
(Not computed)		 C/T >3x increased risk for Alzheimer's; 1.4x increased risk for heart disease
chr19:50103919
(Not computed)		 C/T more likely to gain weight if taking olanzapine
chr19:50114786
(Not computed)		 A/G ~3x increased Alzheimer's risk; 1.4x increased heart disease risk
chr19:50873232
(Not computed)		 C/G 0.72x risk for heart disease
chr19:53898229
(Not computed)		 G/G higher B12 levels in women
chr19:53898486
(Not computed)		 A/A resistance to Norwalk virus infection
chr20:3724175
(Not computed)		 T/T 1.3x risk (bipolar disorder)
chr20:6715111
(Not computed)		 A/G higher transferrin levels if rs1800562(A;A)
chr20:10174146
(Not computed)		 C/T somewhat higher IQ
chr20:10179174
(Not computed)		 C/T somewhat higher IQ
chr20:10182257
(Not computed)		 A/G 3+ IQ points
chr20:33041912
(Not computed)		 G/G 1.25x increased risk for breast cancer
chr20:33370575
(Not computed)		 C/T 0.44cm taller
chr20:33489397
(Not computed)		 A/G 1.1x increased risk for osteoarthritis
chr20:43981600
(Not computed)		 T/T lower HDL cholesterol
chr20:44069383
(Not computed)		 C/T 1.14x increased risk for MI; also check haplotype
chr20:44073632
(Not computed)		 A/G higher risk for MI and lung cancer, and, COPD in smokers
chr20:54394948
(Not computed)		 A/T higher cancer risk
chr21:42427525
(Not computed)		 T/T 1.6x increased risk for high myopia
chr22:21851094
(Not computed)		 A/G 1.3x increased risk for depression
chr22:21888561
(Not computed)		 A/T 1.3x increased risk for depression
chr22:21899063
(Not computed)		 A/G 1.3x increased risk for depression
chr22:21957369
(Not computed)		 G/G 1.4x increased risk for bipolar disorder
chr22:21978009
(Not computed)		 A/G 1.5x increased risk for bipolar disorder
chr22:25019635
(Not computed)		 C/T 1.1x risk (heart disease)
chr22:38247461
(Not computed)		 A/C 1.78x increased risk for schizophrenia in males
chr22:40852557
(Not computed)		 C/G carrier of one CYP2D6*2 or perhaps CYP2D6*39 allele
chr22:40854891
(Not computed)		 C/T extensive metabolizer (usually)
chrX:66682352
(Not computed)		 A if male, might go bald
chrX:128698472
(Not computed)		 A risk of [[angioedema]]
chrX:152978640
(Not computed)		 C 1.4x increased risk for lupus

Other hypotheses (567)

Coordinates
Gene, amino acid change
 Genotype
Associated trait
Score
chr1:11013503
MASP2, D371Y		 A/C MASP2 deficiency (3) 5
chr1:11828655
NPPA, *152R		 G/A Atrial fibrillation, familial, 6, 612201 (3) 10
chr1:16128594
SPEN, L1091P		 C/T Megakaryoblastic leukemia, acute (2) 4
chr1:16243654
CLCNKB, R27L		 T/T Bartter syndrome, type 3, 607364 (3) 4
chr1:16243654
CLCNKB, R27L		 T/T Bartter syndrome, type 4, digenic, 602522 (3) 4
chr1:25500750
RHD, G263R		 A/G [Rh-negative blood type] (3) 4
chr1:26004241
SEPN1, C108Y		 A/A Muscular dystrophy, rigid spine, 1, 602771 (3) 4
chr1:55301775
PCSK9, G670E		 A/A Hypercholesterolemia, familial, 3, 603776 (3) 4
chr1:55301775
PCSK9, G670E		 A/A {Low density lipoprotein cholesterol level QTL 1} (3) 4
chr1:57155946
C8A, P575L		 T/C C8 deficiency, type I (2) 4
chr1:57195072
C8B, G117R		 T/T C8 deficiency, type II (3) 4
chr1:63654140
ALG6, S304F		 T/C Congenital disorder of glycosylation, type Ic, 603147 (3) 3
chr1:67457975
IL23R, L310P		 C/C {Crohn disease, ileal, protection against}, 612261 (3) 4
chr1:67457975
IL23R, L310P		 C/C {Psoriasis, protection against}, 177900 (3) 4
chr1:98121473
DPYD, R29C		 A/A 5-fluorouracil toxicity, 274270 (3) 5
chr1:98121473
DPYD, R29C		 A/A Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5
chr1:103152506
COL11A1, P1284L		 A/G Marshall syndrome, 154780 (3) 4
chr1:103152506
COL11A1, P1284L		 A/G Stickler syndrome, type II, 604841 (3) 4
chr1:103152506
COL11A1, P1284L		 A/G {Lumbar disc herniation, susceptibility to}, 603932 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Diabetes, type 1, susceptibility to}, 222100 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Rheumatoid arthritis, susceptibility to}, 180300 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Systemic lupus erythematosus susceptibility to}, 152700 (3) 4
chr1:148792894
ADAMTSL4, S268F		 T/C Ectopia lentis, isolated, autosomal recessive, 225100 (3) 3
chr1:150548891
FLG, R1699C		 A/G Ichthyosis vulgaris, 146700 (3) 5
chr1:150548891
FLG, R1699C		 A/G {Dermatitis, atopic, susceptibility to}, 605803 (3) 5
chr1:150552991
FLG, G332V		 A/A Ichthyosis vulgaris, 146700 (3) 5
chr1:150552991
FLG, G332V		 A/A {Dermatitis, atopic, susceptibility to}, 605803 (3) 5
chr1:152841444
ADAR, R100G		 C/C Dyschromatosis symmetrica hereditaria, 127400 (3) 4
chr1:156878860
SPTA1, C1568R		 G/G Elliptocytosis-2, 130600 (3) 5
chr1:156878860
SPTA1, C1568R		 G/G Pyropoikilocytosis, 266140 (3) 5
chr1:156878860
SPTA1, C1568R		 G/G Spherocytosis, type 3, 270970 (3) 5
chr1:167830575
SELP, T756P		 G/T Platelet alpha/delta storage pool deficiency (1) 3
chr1:167830575
SELP, T756P		 G/T {Atopy, susceptibility to}, 147050 (3) 3
chr1:169349866
FMO3, E308G		 G/A Trimethylaminuria, 602079 (3) 4
chr1:181361170
LAMC1, L888P		 C/T {?Pelvic organ prolapse, susceptibility to}, 176780 (3) 4
chr1:184317040
HMCN1, E2893G		 G/A {Macular degeneration, age-related, 1}, 603075 (3) 4
chr1:184540617
PRG4, R139W		 T/T Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) 4
chr1:184543900
PRG4, G675E		 A/G Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) 4
chr1:195331881
ASPM, C2953R		 G/A Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern, 608716 (3) 5
chr1:201419424
CHI3L1, R145G		 C/T {Asthma-related traits, susceptibility to, 7}, 611960 (3) 4
chr1:201419424
CHI3L1, R145G		 C/T {Schizophrenia, susceptiblity to}, 181500 (3) 4
chr1:229474714
GNPAT, D519G		 G/A Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) 3
chr1:235115123
MTR, D919G		 G/A Methylcobalamin deficiency, cblG type, 250940 (3) 3
chr1:235115123
MTR, D919G		 G/A {Cleft lip/palate, susceptibility to}, 119530 (3) 3
chr1:235115123
MTR, D919G		 G/A {Down syndrome, susceptibility to}, 190685 (3) 3
chr1:235115123
MTR, D919G		 G/A {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) 3
chr1:235844705
RYR2, G1885E		 A/G Arrhythmogenic right ventricular dysplasia 2, 600996 (3) 4
chr1:235844705
RYR2, G1885E		 A/G Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3) 4
chr2:1478934
TPO, T552P		 C/C Goiter, congenital (3) 3
chr2:1478934
TPO, T552P		 C/C Hyperthyroidism, congenital (3) 3
chr2:1478934
TPO, T552P		 C/C Thrombocythemia, essential, 187950 (3) 3
chr2:1478934
TPO, T552P		 C/C Thyroid hormone organification defect IIA, 274500 (3) 3
chr2:1478934
TPO, T552P		 C/C Total iodide organification defect, 274500 (3) 3
chr2:21085029
APOB, P2739L		 A/G Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) 4
chr2:21085029
APOB, P2739L		 A/G Hypobetalipoproteinemia (3) 4
chr2:21085029
APOB, P2739L		 A/G Hypobetalipoproteinemia, normotriglyceridemic (3) 4
chr2:21088980
APOB, Y1422C		 C/C Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) 4
chr2:21088980
APOB, Y1422C		 C/C Hypobetalipoproteinemia (3) 4
chr2:21088980
APOB, Y1422C		 C/C Hypobetalipoproteinemia, normotriglyceridemic (3) 4
chr2:26554204
OTOF, P21L		 A/G Deafness, autosomal recessive 9, 601071 (3) 4
chr2:26595465
OTOF, R82C		 A/A Deafness, autosomal recessive 9, 601071 (3) 5
chr2:43925247
ABCG8, Y54C		 G/A Gallbladder disease 4, 611465 (3) 4
chr2:43925247
ABCG8, Y54C		 G/A Sitosterolemia, 210250 (3) 4
chr2:71204911
MCEE, R104L		 A/A Methylmalonyl-CoA epimerase deficiency, 251120 (3) 4
chr2:73505475
ALMS1, R392C		 T/C Alstrom syndrome, 203800 (3) 5
chr2:73529177
ALMS1, V671G		 G/G Alstrom syndrome, 203800 (3) 5
chr2:73534016
ALMS1, R2284P		 C/G Alstrom syndrome, 203800 (3) 3
chr2:110316315
NPHP1, P39T		 T/T Joubert syndrome 4, 609583 (3) 3
chr2:110316315
NPHP1, P39T		 T/T Nephronophthisis, juvenile, 256100 (3) 3
chr2:110316315
NPHP1, P39T		 T/T Senior-Loken syndrome-1, 266900 (3) 3
chr2:130996158
CFC1, W78R		 C/C Double-outlet right ventricle, 217095 (3) 4
chr2:130996158
CFC1, W78R		 C/C Heterotaxy, visceral, 2, autosomal, 605376 (3) 4
chr2:130996158
CFC1, W78R		 C/C Transposition of the great arteries, dextro-looped 2 (3) 4
chr2:152112494
NEB, L5008P		 G/A Nemaline myopathy 2, autosomal recessive, 256030 (3) 4
chr2:152184274
NEB, W3348C		 G/C Nemaline myopathy 2, autosomal recessive, 256030 (3) 5
chr2:166807404
SCN9A, W1150R		 G/G Erythermalgia, primary, 133020 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Insensitivity to pain, channelopathy-associated, 243000 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Paroxysmal extreme pain disorder, 167400 (3) 4
chr2:179148275
TTN, R14545C		 A/G Cardiomyopathy, dilated, 1G, 604145 (3) 5
chr2:179148275
TTN, R14545C		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 5
chr2:179148275
TTN, R14545C		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 5
chr2:179148275
TTN, R14545C		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 5
chr2:179148275
TTN, R14545C		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 5
chr2:179148275
TTN, R14545C		 A/G Tibial muscular dystrophy, tardive, 600334 (3) 5
chr2:179262550
TTN, G9378R		 T/C Cardiomyopathy, dilated, 1G, 604145 (3) 4
chr2:179262550
TTN, G9378R		 T/C Cardiomyopathy, familial hypertrophic, 9 (3) 4
chr2:179262550
TTN, G9378R		 T/C Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 4
chr2:179262550
TTN, G9378R		 T/C Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 4
chr2:179262550
TTN, G9378R		 T/C Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 4
chr2:179262550
TTN, G9378R		 T/C Tibial muscular dystrophy, tardive, 600334 (3) 4
chr2:179324132
TTN, D3747G		 C/C Cardiomyopathy, dilated, 1G, 604145 (3) 3
chr2:179324132
TTN, D3747G		 C/C Cardiomyopathy, familial hypertrophic, 9 (3) 3
chr2:179324132
TTN, D3747G		 C/C Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 3
chr2:179324132
TTN, D3747G		 C/C Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 3
chr2:179324132
TTN, D3747G		 C/C Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 3
chr2:179324132
TTN, D3747G		 C/C Tibial muscular dystrophy, tardive, 600334 (3) 3
chr2:179329196
TTN, G3580D		 T/T Cardiomyopathy, dilated, 1G, 604145 (3) 3
chr2:179329196
TTN, G3580D		 T/T Cardiomyopathy, familial hypertrophic, 9 (3) 3
chr2:179329196
TTN, G3580D		 T/T Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 3
chr2:179329196
TTN, G3580D		 T/T Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 3
chr2:179329196
TTN, G3580D		 T/T Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 3
chr2:179329196
TTN, G3580D		 T/T Tibial muscular dystrophy, tardive, 600334 (3) 3
chr2:179352280
TTN, S1249L		 A/A Cardiomyopathy, dilated, 1G, 604145 (3) 4
chr2:179352280
TTN, S1249L		 A/A Cardiomyopathy, familial hypertrophic, 9 (3) 4
chr2:179352280
TTN, S1249L		 A/A Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 4
chr2:179352280
TTN, S1249L		 A/A Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 4
chr2:179352280
TTN, S1249L		 A/A Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 4
chr2:179352280
TTN, S1249L		 A/A Tibial muscular dystrophy, tardive, 600334 (3) 4
chr2:215981145
FN1, T817P		 G/G Glomerulopathy with fibronectin deposits 2, 601894 (3) 3
chr2:216008727
FN1, Q15L		 A/T Glomerulopathy with fibronectin deposits 2, 601894 (3) 3
chr2:227624091
COL4A4, G999E		 T/C Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227624091
COL4A4, G999E		 T/C Hematuria, familial benign (3) 4
chr2:227819679
COL4A3, L141P		 C/C Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227819679
COL4A3, L141P		 C/C Hematuria, benign familial, 141200 (3) 4
chr2:227821419
COL4A3, E162G		 G/G Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227821419
COL4A3, E162G		 G/G Hematuria, benign familial, 141200 (3) 4
chr2:227829345
COL4A3, D326Y		 T/T Alport syndrome, autosomal recessive, 203780 (3) 5
chr2:227829345
COL4A3, D326Y		 T/T Hematuria, benign familial, 141200 (3) 5
chr2:230758959
SP110, L425S		 G/G Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230758959
SP110, L425S		 G/G {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr2:230780953
SP110, G299R		 T/C Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230780953
SP110, G299R		 T/C {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr2:230785969
SP110, W112R		 G/G Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230785969
SP110, W112R		 G/G {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr2:238091933
MLPH, L153P		 C/T Griscelli syndrome, type 3, 609227 (3) 4
chr2:238091990
MLPH, G172D		 A/G Griscelli syndrome, type 3, 609227 (3) 3
chr3:3145792
TRNT1, P23L		 T/T Deafness, mitochondrial, modifier of, 580000 (3) 4
chr3:9773475
OGG1, G308E		 A/G Renal cell carcinoma, clear cell, somatic, 144700 (3) 4
chr3:10081532
FANCD2, P714L		 T/C Fanconi anemia, complementation group D2 (3) 4
chr3:10303453
GHRL, Q39L		 A/T {Obesity, susceptibility to}, 601665 (3) 3
chr3:12021131
SYN2, T36P		 C/A {Schizophrenia, susceptibility to}, 181500 (3) 3
chr3:14172989
XPC, L591Q		 T/T Xeroderma pigmentosum, group C (3) 3
chr3:33030725
GLB1, C390R		 G/G GM1-gangliosidosis, type I, 230500 (3) 5
chr3:33030725
GLB1, C390R		 G/G GM1-gangliosidosis, type II, 230600 (3) 5
chr3:33030725
GLB1, C390R		 G/G GM1-gangliosidosis, type III, 230650 (3) 5
chr3:33030725
GLB1, C390R		 G/G Morquio syndrome B, 253010 (3) 5
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type I, 230500 (3) 4
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type II, 230600 (3) 4
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type III, 230650 (3) 4
chr3:33113553
GLB1, P10L		 A/G Morquio syndrome B, 253010 (3) 4
chr3:38055956
DLEC1, L79R		 G/G Esophageal cancer, 133239 (1) 4
chr3:38055956
DLEC1, L79R		 G/G Lung cancer, 211980 (1) 4
chr3:49369838
GPX1, P200L		 A/G Hemolytic anemia due to glutathione peroxidase deficiency (1) 4
chr3:52827578
ITIH4, P698T		 T/G {Hypercholesterolemia, susceptibility to}, 143890 (3) 3
chr3:52836251
ITIH4, I85N		 T/A {Hypercholesterolemia, susceptibility to}, 143890 (3) 5
chr3:122983389
IQCB1, C301Y		 T/C Senior-Loken syndrome 5, 609254 (3) 4
chr3:159803397
MLF1, P201T		 A/C Leukemia, acute myeloid, 601626 (1) 3
chr3:184237903
MCCC1, H464P		 G/G 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) 3
chr3:187878130
HRG, R448C		 T/C Thrombophilia due to HRG deficiency (3) 5
chr3:187878130
HRG, R448C		 T/C Thrombophilia due to elevated HRG (1) (?) 5
chr3:187878266
HRG, N493I		 T/T Thrombophilia due to HRG deficiency (3) 5
chr3:187878266
HRG, N493I		 T/T Thrombophilia due to elevated HRG (1) (?) 5
chr3:192575869
CCDC50, I258N		 A/T Deafness, autosomal dominant 44, 607453 (3) 5
chr4:2876505
ADD1, G460W		 T/G {Hypertension, essential, salt-sensitive}, 145500 (3) 5
chr4:3464893
DOK7, G461D		 A/G Myasthenia, limb-girdle, familial, 254300 (3) 3
chr4:5771985
EVC, D95G		 G/A Ellis-van Creveld syndrome, 225500 (3) 3
chr4:5771985
EVC, D95G		 G/A Weyers acrodental dysostosis, 193530 (3) 3
chr4:9393715
DRD5, C322R		 C/T Dystonia, primary cervical (3) 5
chr4:9393715
DRD5, C322R		 C/T {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) 5
chr4:9393715
DRD5, C322R		 C/T {Blepharospasm, primary benign}, 606798 (3) 5
chr4:9519021
SLC2A9, P321L		 A/G Hypouricemia, renal, 2, 612076 (3) 4
chr4:9519021
SLC2A9, P321L		 A/G {Uric acid concentration, serum, QTL 2}, 612076 (3) 4
chr4:9632079
SLC2A9, G25R		 T/C Hypouricemia, renal, 2, 612076 (3) 4
chr4:9632079
SLC2A9, G25R		 T/C {Uric acid concentration, serum, QTL 2}, 612076 (3) 4
chr4:25287297
SLC34A2, D634G		 G/G Pulmonary alveolar microlithiasis, 265100 (3) 3
chr4:25287297
SLC34A2, D634G		 G/G Testicular microlithiasis, 610441 (3) (?) 3
chr4:38475043
TLR1, S602I		 A/C {Leprosy, protection against}, 246300 (3) 4
chr4:40954390
UCHL1, S18Y		 A/C Parkinson disease, familial, 168600 (3) 3
chr4:79459087
FRAS1, D687G		 G/A Fraser syndrome, 219000 (3) 3
chr4:89147992
PKD2, R28P		 C/G Polycystic kidney disease, adult, type II (3) 3
chr4:100487213
ADH1C, *78G		 C/C {Parkinson disease, susceptibility to}, 168600 (3) 10
chr4:103184066
BANK1, C517R		 C/C {Systemic lupus erythmatosus, association with}, 152700 (3) 5
chr4:111121560
EGF, D784V		 T/A Hypomagnesemia 4, renal, 611718 (3) 5
chr4:111133876
EGF, E920V		 T/A Hypomagnesemia 4, renal, 611718 (3) 3
chr4:114501448
ANK2, R1474W		 T/C Cardiac arrhythmia, ankyrin-B-related, 600919 (3) 4
chr4:114501448
ANK2, R1474W		 T/C Long QT syndrome-4, 600919 (3) 4
chr5:7931179
MTRR, S175L		 T/C Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) 4
chr5:7931179
MTRR, S175L		 T/C {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) 4
chr5:7938830
MTRR, Y307C		 G/A Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) 4
chr5:7938830
MTRR, Y307C		 G/A {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) 4
chr5:34034640
AMACR, L201S		 G/G Alpha-methylacyl-CoA racemase deficiency (3) 4
chr5:34034640
AMACR, L201S		 G/G Bile acid synthesis defect, congenital, 4, 214950 (3) 4
chr5:34040464
AMACR, G175D		 T/T Alpha-methylacyl-CoA racemase deficiency (3) 3
chr5:34040464
AMACR, G175D		 T/T Bile acid synthesis defect, congenital, 4, 214950 (3) 3
chr5:39400311
C9, R5W		 A/G C9 deficiency (3) 4
chr5:39400311
C9, R5W		 A/G C9 deficiency with dermatomyositis (3) 4
chr5:74017026
HEXB, L62S		 C/C Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) 4
chr5:74017026
HEXB, L62S		 C/C Spinal muscular atrophy, juvenile (3) 4
chr5:77460784
AP3B1, V585E		 T/T Hermansky-Pudlak syndrome 2, 608233 (3) 3
chr5:89950681
GPR98, L127R		 G/T Convulsions, familial febrile, 4, 604352 (3) 4
chr5:89950681
GPR98, L127R		 G/T Usher syndrome, type IIC, 605472 (3) 4
chr5:90142864
GPR98, E5344G		 G/G Convulsions, familial febrile, 4, 604352 (3) 4
chr5:90142864
GPR98, E5344G		 G/G Usher syndrome, type IIC, 605472 (3) 4
chr5:112204655
APC, V1822D		 A/A Adenoma, periampullary (3) 5
chr5:112204655
APC, V1822D		 A/A Adenomatous polyposis coli, 175100 (3) 5
chr5:112204655
APC, V1822D		 A/A Brain tumor-polyposis syndrome 2 (3) 5
chr5:112204655
APC, V1822D		 A/A Colorectal cancer, somatic, 114500 (3) 5
chr5:112204655
APC, V1822D		 A/A Desmoid disease, hereditary, 135290 (3) 5
chr5:112204655
APC, V1822D		 A/A Gardner syndrome (3) 5
chr5:112204655
APC, V1822D		 A/A Gastric cancer, somatic, 137215 (3) 5
chr5:112204655
APC, V1822D		 A/A Hepatoblastoma (3) 5
chr5:148186633
ADRB2, G16R		 A/A Beta-2-adrenoreceptor agonist, reduced response to (3) 4
chr5:148186633
ADRB2, G16R		 A/A {Asthma, nocturnal, susceptibility to}, 600807 (3) 4
chr5:148186633
ADRB2, G16R		 A/A {Obesity, susceptibility to}, 601665 (3) 4
chr5:156412087
HAVCR1, L179P		 G/G {Atopy, resistance to}, 147050 (3) 4
chr5:162829228
HMMR, R6C		 T/C {Breast cancer, susceptibility to}, 114480 (3) 5
chr5:176450403
FGFR4, P136L		 T/T {Cancer progression/metastasis} (3) 4
chr5:176452849
FGFR4, G388R		 A/G {Cancer progression/metastasis} (3) 4
chr6:18230485
NHLRC1, P111L		 A/G Epilepsy, myoclonic, Lafora type, 254780 (3) 4
chr6:18230485
NHLRC1, P111L		 A/G Epilepsy, progressive myoclonic 2B, 254780 (3) 4
chr6:24704457
KIAA0319, T142P		 G/G {Dyslexia, susceptibility to, 2}, 600202 (3) 3
chr6:30018780
HLA-A, A114D		 A/C {Abacavir hypersensitivity, susceptibility to} (3) 3
chr6:30018780
HLA-A, A114D		 A/C {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3) 3
chr6:30018780
HLA-A, A114D		 A/C {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) 3
chr6:30019071
HLA-A, G131W		 T/G {Abacavir hypersensitivity, susceptibility to} (3) 5
chr6:30019071
HLA-A, G131W		 T/G {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3) 5
chr6:30019071
HLA-A, G131W		 T/G {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) 5
chr6:30019098
HLA-A, D140Y		 T/G {Abacavir hypersensitivity, susceptibility to} (3) 5
chr6:30019098
HLA-A, D140Y		 T/G {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3) 5
chr6:30019098
HLA-A, D140Y		 T/G {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) 5
chr6:30020259
HLA-A, L300P		 C/T {Abacavir hypersensitivity, susceptibility to} (3) 4
chr6:30020259
HLA-A, L300P		 C/T {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3) 4
chr6:30020259
HLA-A, L300P		 C/T {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) 4
chr6:31347080
HLA-C, S123Y		 T/G {Psoriasis, early onset, susceptibility to}, 177900 (3) 3
chr6:31432015
HLA-B, E176V		 A/T {Abacavir hypersensitivity, susceptibility to} (3) 3
chr6:31432015
HLA-B, E176V		 A/T {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) 3
chr6:31432015
HLA-B, E176V		 A/T {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) 3
chr6:31633891
NFKBIL1, R186C		 T/T {Rheumatoid arthritis, susceptibility to}, 180300 (3) 5
chr6:32022158
CFB, R32W		 T/C {Macular degeneration, age-related, reduced risk of}, 603075 (3) 4
chr6:32134085
TNXB, G2518E		 T/C Ehlers-Danlos due to tenascin X deficiency, 606408 (3) 4
chr6:32134085
TNXB, G2518E		 T/C Ehlers-Danlos syndrome, hypermobility type, 130020 (3) 4
chr6:32717290
HLA-DQA1, Y103S		 C/C {Celiac disease, susceptibility to}, 212750 (3) 3
chr6:33156664
HLA-DPB1, G113V		 T/T {Beryllium disease, chronic, susceptibility to} (3) 5
chr6:52022915
PKHD1, R760C		 A/G Polycystic kidney and hepatic disease, 263200 (3) 5
chr6:80285260
LCA5, L24S		 G/A Leber congenital amaurosis 5, 604537 (3) 4
chr6:107074471
AIM1, C491R		 C/T Oculocutaneous albinism, type IV, 606574 (3) 5
chr6:107074471
AIM1, C491R		 C/T [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) 5
chr6:107074471
AIM1, C491R		 C/T [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) 5
chr6:107074471
AIM1, C491R		 C/T [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3) 5
chr6:117057526
RSPH4A, L589P		 C/T Ciliary dyskinesia, primary, 11, 612649 (3) 4
chr6:152709904
SYNE1, C3950R		 G/A Spinocerebellar ataxia, autosomal recessive 8, 610743 (3) 5
chr6:154470358
OPRM1, Q411*		 T/C [Response to morphine-6-glucuronide] (3) 10
chr6:154470358
OPRM1, Q411*		 T/C {Epilepsy, idiopathic generalized, susceptibility to}, 600669 (3) 10
chr6:160414399
IGF2R, R1619G		 G/G Hepatocellular carcinoma (3) 4
chr7:21731977
DNAH11, Q2438*		 T/T Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3) 10
chr7:21860518
DNAH11, S3715I		 T/T Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3) 4
chr7:21868091
DNAH11, C3774R		 C/C Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3) 5
chr7:21901036
DNAH11, G4322D		 A/G Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3) 3
chr7:30601073
GARS, P4L		 T/C Charcot-Marie-Tooth disease, type 2D, 601472 (3) 4
chr7:30601073
GARS, P4L		 T/C Neuropathy, distal hereditary motor, type V, 600794 (3) 4
chr7:30928315
AQP1, G165D		 A/G [Aquaporin-1 deficiency] (3) 3
chr7:30928315
AQP1, G165D		 A/G [Blood group, Colton], 110450 (3) 3
chr7:34784638
NPSR1, N107I		 T/T {Asthma, susceptibility to, 2}, 608584 (3) 5
chr7:37873829
TXNDC3, C208R		 C/C Ciliary dyskinesia, primary, 6, 610852 (3) 5
chr7:41972203
GLI3, P998L		 A/G Acrocallosal syndrome, 200990 (3) 4
chr7:41972203
GLI3, P998L		 A/G Greig cephalopolysyndactyly syndrome, 175700 (3) 4
chr7:41972203
GLI3, P998L		 A/G Pallister-Hall syndrome, 146510 (3) 4
chr7:41972203
GLI3, P998L		 A/G Polydactyly, postaxial, types A1 and B, 174200 (3) 4
chr7:41972203
GLI3, P998L		 A/G Polydactyly, preaxial, type IV, 174700 (3) 4
chr7:41972203
GLI3, P998L		 A/G {Hypothalamic hamartomas, somatic}, 241800 (3) 4
chr7:65063329
GUSB, L649P		 G/A Mucopolysaccharidosis VII, 253220 (3) 4
chr7:73112761
ELN, G552R		 C/G Cutis laxa, AD, 123700 (3) 4
chr7:73112761
ELN, G552R		 C/G Supravalvar aortic stenosis, 185500 (3) 4
chr7:100326594
ACHE, P592R		 C/G [Blood group, Yt system], 112100 (3) 3
chr7:113305738
PPP1R3A, L882H		 T/T Insulin resistance, severe, digenic, 604367 (3) 4
chr7:127038424
PAX4, H321P		 G/T Diabetes mellitus, ketosis-prone, 612227 (3) 3
chr7:127038424
PAX4, H321P		 G/T Diabetes mellitus, type 2, 125853 (3) 3
chr7:127038424
PAX4, H321P		 G/T Maturity-onset diabetes of the young, type IX, 612225 (3) 3
chr7:142727929
CLCN1, G118W		 T/T Myotonia congenita, dominant, 160800 (3) 5
chr7:142727929
CLCN1, G118W		 T/T Myotonia congenita, recessive, 255700 (3) 5
chr7:142727929
CLCN1, G118W		 T/T Myotonia levior, recessive (3) 5
chr8:6289826
MCPH1, D392G		 G/G Microcephaly, autosomal recessive 1, 251200 (3) 3
chr8:6289826
MCPH1, D392G		 G/G Premature chromosome condensation with microcephaly and mental retardation, 606858 (3) 3
chr8:8785304
MFHAS1, L892P		 G/G Malignant fibrous histiocytoma (2) 4
chr8:22040890
HR, G337D		 T/T Alopecia universalis, 203655 (3) 3
chr8:22040890
HR, G337D		 T/T Atrichia with papular lesions, 209500 (3) 3
chr8:22040890
HR, G337D		 T/T Hypotrichosis, Marie Unna type, 146550 (3) 3
chr8:31617214
NRG1, G58R		 A/G {?Schizophrenia, susceptibility to}, 603013 (1) 4
chr8:55701948
RP1, N985Y		 T/A Retinitis pigmentosa-1, 180100 (3) 3
chr8:55701948
RP1, N985Y		 T/A {Hypertriglyceridemia, susceptibility to}, 145750 (3) 3
chr8:55705093
RP1, C2033Y		 A/G Retinitis pigmentosa-1, 180100 (3) 4
chr8:55705093
RP1, C2033Y		 A/G {Hypertriglyceridemia, susceptibility to}, 145750 (3) 4
chr8:78058420
PXMP3, C184R		 G/G Refsum disease, infantile form, 266510 (3) 5
chr8:78058420
PXMP3, C184R		 G/G Zellweger syndrome-3 (3) 5
chr8:87735367
CNGB3, T298P		 G/G Achromatopsia-3, 262300 (3) 3
chr8:87735367
CNGB3, T298P		 G/G Macular degeneration, juvenile, 248200 (3) 3
chr8:87748419
CNGB3, C234W		 C/C Achromatopsia-3, 262300 (3) 5
chr8:87748419
CNGB3, C234W		 C/C Macular degeneration, juvenile, 248200 (3) 5
chr8:133968757
TG, G653D		 A/G Goiter, adolescent multinodular (1) 3
chr8:133968757
TG, G653D		 A/G Goiter, nonendemic, simple (3) 3
chr8:133968757
TG, G653D		 A/G Hypothyroidism, hereditary congenital (3) 3
chr8:133968757
TG, G653D		 A/G {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 3
chr8:133989700
TG, D1312G		 G/G Goiter, adolescent multinodular (1) 3
chr8:133989700
TG, D1312G		 G/G Goiter, nonendemic, simple (3) 3
chr8:133989700
TG, D1312G		 G/G Hypothyroidism, hereditary congenital (3) 3
chr8:133989700
TG, D1312G		 G/G {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 3
chr8:134053240
TG, R1999W		 T/C Goiter, adolescent multinodular (1) 4
chr8:134053240
TG, R1999W		 T/C Goiter, nonendemic, simple (3) 4
chr8:134053240
TG, R1999W		 T/C Hypothyroidism, hereditary congenital (3) 4
chr8:134053240
TG, R1999W		 T/C {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 4
chr8:134177728
TG, W2501R		 C/T Goiter, adolescent multinodular (1) 4
chr8:134177728
TG, W2501R		 C/T Goiter, nonendemic, simple (3) 4
chr8:134177728
TG, W2501R		 C/T Hypothyroidism, hereditary congenital (3) 4
chr8:134177728
TG, W2501R		 C/T {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 4
chr8:145611219
SLC39A4, W226R		 G/A Acrodermatitis enteropathica, 201100 (3) 4
chr8:145708444
RECQL4, L1043P		 G/G Baller-Gerold syndrome, 218600 (3) 4
chr8:145708444
RECQL4, L1043P		 G/G RAPADILINO syndrome, 266280 (3) 4
chr8:145708444
RECQL4, L1043P		 G/G Rothmund-Thomson syndrome, 268400 (3) 4
chr9:276593
DOCK8, P97T		 A/A Mental retardation, autosomal dominant 2 (3) 3
chr9:110700672
IKBKAP, G765E		 T/C Dysautonomia, familial, 223900 (3) 4
chr9:134193052
SETX, G1252R		 T/T Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) 4
chr9:134193052
SETX, G1252R		 T/T Ataxia-ocular apraxia-2, 606002 (3) 4
chr9:135121168
ABO, P257L		 A/G [Blood group, ABO system] (3) 4
chr9:135291831
ADAMTS13, P426L		 T/C Thrombotic thrombocytopenic purpura, familial, 274150 (3) 4
chr9:139250427
SLC34A3, E513V		 T/T Hypophosphatemic rickets with hypercalciuria, 241530 (3) 3
chr10:16983377
CUBN, S2717W		 C/C Megaloblastic anemia-1, Finnish type, 261100 (3) 4
chr10:17187527
CUBN, P389T		 T/T Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:17196157
CUBN, F253S		 G/A Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:50348375
ERCC6, R1213G		 C/T Cerebrooculofacioskeletal syndrome 1, 214150 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T Cockayne syndrome, type B, 133540 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T De Sanctis-Cacchione syndrome, 278800 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T UV-sensitive syndrome, 600630 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T {Lung cancer}, 211980 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T {Macular degeneration, age-related, susceptibility to 5} (3) 4
chr10:54201241
MBL2, G54D		 T/C Mannose-binding protein deficiency (3) 3
chr10:54201241
MBL2, G54D		 T/C {Chronic infections, due to MBL deficiency} (3) 3
chr10:54201241
MBL2, G54D		 T/C {Diabetes mellitus, gestational, susceptibility to} (3) 3
chr10:54201241
MBL2, G54D		 T/C {Meningococcal disease, susceptibility to} (3) 3
chr10:54201241
MBL2, G54D		 T/C {Preterm delivery, susceptibility to} (3) 3
chr10:55296582
PCDH15, Y1110*		 T/G Deafness, autosomal recessive 23, 609533 (3) 10
chr10:55296582
PCDH15, Y1110*		 T/G Usher syndrome, type 1D/F digenic, 601067 (3) 10
chr10:55296582
PCDH15, Y1110*		 T/G Usher syndrome, type 1F, 602083 (3) 10
chr10:61222698
CCDC6, P470T		 T/G Thyroid papillary carcinoma, 188550 (1) 3
chr10:71002210
NEUROG3, F199S		 G/A Diarrhea 4, malabsorptive, congenital, 610370 (3) 3
chr10:72752569
SLC29A3, R18G		 G/A Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) 4
chr10:72781414
SLC29A3, S158F		 T/T Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) 3
chr10:73162079
CDH23, R1349C		 T/C Deafness, autosomal recessive 12, 601386 (3) 5
chr10:73162079
CDH23, R1349C		 T/C Usher syndrome, type 1D, 601067 (3) 5
chr10:73162079
CDH23, R1349C		 T/C Usher syndrome, type 1D/F digenic, 601067 (3) 5
chr10:73228958
CDH23, P2380L		 T/T Deafness, autosomal recessive 12, 601386 (3) 4
chr10:73228958
CDH23, P2380L		 T/T Usher syndrome, type 1D, 601067 (3) 4
chr10:73228958
CDH23, P2380L		 T/T Usher syndrome, type 1D/F digenic, 601067 (3) 4
chr10:75343107
PLAU, L124P		 C/C {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) 4
chr10:90997340
LIPA, T16P		 G/T Cholesteryl ester storage disease (3) 3
chr10:90997340
LIPA, T16P		 G/T Wolman disease (3) 3
chr10:96029587
PLCE1, R1575P		 C/C Nephrotic syndrome, type 3, 610725 (3) 3
chr10:99494620
ZFYVE27, G138V		 T/T Spastic paraplegia 33, 610244 (3) 5
chr10:105783740
COL17A1, D1370G		 C/T Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) 3
chr10:115795046
ADRB1, G389R		 C/C [Resting heart rate], 607276 (3) 4
chr10:115795046
ADRB1, G389R		 C/C {Congestive heart failure and beta-blocker response, modifier of} (3) 4
chr10:124319700
DMBT1, P42T		 A/C Glioblastoma multiforme, somatic, 137800 (3) 3
chr10:124319700
DMBT1, P42T		 A/C Medulloblastoma, 155255 (2) 3
chr10:124320417
DMBT1, S54L		 T/C Glioblastoma multiforme, somatic, 137800 (3) 4
chr10:124320417
DMBT1, S54L		 T/C Medulloblastoma, 155255 (2) 4
chr11:814789
PNPLA2, L481P		 C/C Neutral lipid storage disease with myopathy, 610717 (3) 4
chr11:6372039
SMPD1, G464R		 A/G Niemann-Pick disease, type A, 257200 (3) 4
chr11:6372039
SMPD1, G464R		 A/G Niemann-Pick disease, type B, 607616 (3) 4
chr11:20579618
SLC6A5, F124S		 C/T Hyperekplexia, 149400 (3) 3
chr11:47388304
SLC39A13, E28G		 G/G Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3) 4
chr11:47426921
RAPSN, R58C		 A/G Fetal akinesia deformation sequence, 208150 (3) 5
chr11:47426921
RAPSN, R58C		 A/G Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3) 5
chr11:47426921
RAPSN, R58C		 A/G Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3) 5
chr11:65165513
SIPA1, S182F		 T/C Metastasis efficiency, modification of (1) 3
chr11:68435538
IGHMBP2, L201S		 C/C Neuronopathy, distal hereditary motor, type VI, 604320 (3) 4
chr11:68460604
IGHMBP2, R694W		 T/C Neuronopathy, distal hereditary motor, type VI, 604320 (3) 4
chr11:68607990
TPCN2, L564P		 C/C [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) 4
chr11:68611939
TPCN2, G734E		 A/G [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) 4
chr11:71397678
NUMA1, R1681C		 A/G Leukemia, acute promyelocytic, NUMA/RARA type (3) 5
chr11:88551344
TYR, S192Y		 A/C Albinism, oculocutaneous, type IA, 203100 (3) 3
chr11:88551344
TYR, S192Y		 A/C Albinism, oculocutaneous, type IB, 606952 (3) 3
chr11:88551344
TYR, S192Y		 A/C Waardenburg syndrome/albinism, digenic, 103470 (3) 3
chr11:88551344
TYR, S192Y		 A/C [Skin/hair/eye pigmentation 3, freckling], 601800 (3) 3
chr11:112773269
ANKK1, G318R		 A/A Dopamine receptor D2, reduced brain density of (3) 4
chr11:112775225
ANKK1, G442R		 C/C Dopamine receptor D2, reduced brain density of (3) 4
chr11:117198465
FXYD2, E68G		 C/T Hypomagnesemia-2, renal, 154020 (3) 4
chr11:118034227
TREH, *578S		 G/G Trehalase deficiency, 612119 (1) 10
chr11:119015854
PVRL1, V361G		 C/C Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3) 5
chr11:119015854
PVRL1, V361G		 C/C Ectodermal dysplasia, Margarita Island type, 225060 (3) 5
chr11:119015854
PVRL1, V361G		 C/C Orofacial cleft 7 (3) 5
chr11:119015854
PVRL1, V361G		 C/C Zlotogora-Ogur syndrome, 225000 (3) 5
chr12:861173
WNK1, T1056P		 C/A Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) 3
chr12:861173
WNK1, T1056P		 C/A Pseudohypoaldosteronism, type IIC, 145260 (3) 3
chr12:12762366
CDKN1B, V109G		 G/T Multiple endocrine neoplasia, type IV, 610755 (3) 5
chr12:32913201
PKP2, L366P		 G/A Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3) 4
chr12:49366631
DIP2B, R484W		 T/C Mental retardation, FRA12A type, 136630 (3) 4
chr12:50968192
KRT81, L248R		 C/A Monilethrix, 158000 (3) 4
chr12:51114085
KRT75, R91G		 C/T {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) 4
chr12:51472355
KRT3, R375G		 C/C Meesmann corneal dystrophy, 122100 (3) 4
chr12:55711185
MYO1A, S797F		 A/G Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3) 3
chr12:111841825
OAS1, G397R		 A/G {Diabetes mellitus, type 1, susceptibility to}, 222100 (3) 4
chr12:111841825
OAS1, G397R		 A/G {Viral infection, susceptibility to} (3) 4
chr12:119918758
HNF1A, V380D		 A/T Hepatic adenoma, 142330 (3) 5
chr12:119918758
HNF1A, V380D		 A/T MODY, type III, 600496 (3) 5
chr12:119918758
HNF1A, V380D		 A/T Renal cell carcinoma, 144700 (3) 5
chr12:119918758
HNF1A, V380D		 A/T {Diabetes mellitus, insulin-dependent}, 222100 (3) 5
chr12:119918758
HNF1A, V380D		 A/T {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3) 5
chr13:38241822
FREM2, R1840W		 T/C Fraser syndrome, 219000 (3) 4
chr13:102325850
ERCC5, G1053R		 C/C Cerebrooculofacioskeletal syndrome 3 (3) 4
chr13:102325850
ERCC5, G1053R		 C/C Xeroderma pigmentosum, group G, 278780 (3) 4
chr13:102325931
ERCC5, G1080R		 C/C Cerebrooculofacioskeletal syndrome 3 (3) 4
chr13:102325931
ERCC5, G1080R		 C/C Xeroderma pigmentosum, group G, 278780 (3) 4
chr13:109637551
COL4A1, T555P		 G/G Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) 3
chr13:109637551
COL4A1, T555P		 G/G Brain small vessel disease with Axenfeld-Rieger anomaly, 607595 (3) 3
chr13:109637551
COL4A1, T555P		 G/G Brain small vessel disease with hemorrhage, 607595 (3) 3
chr13:109637551
COL4A1, T555P		 G/G Porencephaly, 175780 (3) 3
chr13:110166165
ING1, L125R		 G/G Squamous cell carcinoma, head and neck, 275355 (3) 4
chr14:49162221
C14orf104, D720G		 C/T Ciliary dyskinesia, primary, 10, 612518 (3) 3
chr14:49848566
L2HGDH, L18R		 C/A L-2-hydroxyglutaric aciduria, 236792 (3) 4
chr14:67319252
ZFYVE26, C1457Y		 T/C Spastic paraplegia 15, 270700 (3) 4
chr14:74583581
MLH3, P844L		 A/G Colon cancer, hereditary nonpolypopsis, type 7 (3) 4
chr14:74583581
MLH3, P844L		 A/G Colorectal cancer, somatic, 114500 (3) 4
chr14:95226940
TCL1B, G93R		 A/G Leukemia/lymphoma, T-cell (2) 4
chr15:43148472
SORD, Q239L		 T/A Cataract, congenital (2) (?) 3
chr15:43179367
DUOX2, S1067L		 A/A Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3) 4
chr15:43191358
DUOX2, P138L		 A/A Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3) 4
chr15:46495220
FBN1, G2619E		 T/C Aortic aneurysm, ascending, and dissection (3) 4
chr15:46495220
FBN1, G2619E		 T/C Ectopia lentis, familial, 129600 (3) 4
chr15:46495220
FBN1, G2619E		 T/C MASS syndrome, 604308 (3) 4
chr15:46495220
FBN1, G2619E		 T/C Marfan syndrome, 154700 (3) 4
chr15:46495220
FBN1, G2619E		 T/C Shprintzen-Goldberg syndrome, 182212 (3) 4
chr15:46495220
FBN1, G2619E		 T/C Weill-Marchesani syndrome, dominant, 608328 (3) 4
chr15:46594929
FBN1, C472Y		 T/T Aortic aneurysm, ascending, and dissection (3) 4
chr15:46594929
FBN1, C472Y		 T/T Ectopia lentis, familial, 129600 (3) 4
chr15:46594929
FBN1, C472Y		 T/T MASS syndrome, 604308 (3) 4
chr15:46594929
FBN1, C472Y		 T/T Marfan syndrome, 154700 (3) 4
chr15:46594929
FBN1, C472Y		 T/T Shprintzen-Goldberg syndrome, 182212 (3) 4
chr15:46594929
FBN1, C472Y		 T/T Weill-Marchesani syndrome, dominant, 608328 (3) 4
chr15:50430856
MYO5A, R1246C		 A/G Griscelli syndrome, type 1, 214450 (3) 5
chr15:53546485
DYX1C1, E191G		 C/C {Dyslexia, susceptibility to, 1}, 127700 (3) 4
chr15:72006599
LOXL1, R141L		 T/G {Exfoliation syndrome, susceptibility to}, 177650 (3) 4
chr15:72115194
PML, G732V		 T/G Leukemia, acute promyelocytic, PML/RARA type (3) 5
chr15:78259581
FAH, R341W		 T/C Tyrosinemia, type I (3) 4
chr15:79008567
KIAA1199, G870D		 A/G Deafness, nonsyndromic (3) (?) 3
chr15:87199609
ACAN, S930I		 T/T Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) 4
chr16:1069873
SSTR5, P335L		 T/C Somatostatin analog, resistance to, 102200 (3) 4
chr16:20694741
ACSM3, L100P		 C/T {?Hypertension, essential} (1) 4
chr16:27281465
IL4R, C431R		 C/T {AIDS, slow progression to}, 609423 (3) 5
chr16:27281465
IL4R, C431R		 C/T {Atopy, susceptibility to}, 147050 (3) 5
chr16:46761579
ABCC11, N1277Y		 A/T [Earwax, wet/dry], 117800 (3) 3
chr16:49303427
NOD2, R702W		 T/C Blau syndrome, 186580 (3) 4
chr16:49303427
NOD2, R702W		 T/C Sarcoidosis, early-onset, 609464 (3) 4
chr16:49303427
NOD2, R702W		 T/C {Crohn disease, susceptibility to}, 266600 (3) 4
chr16:49303427
NOD2, R702W		 T/C {Psoriatic arthritis, susceptibility to}, 607507 (3) 4
chr16:49314041
NOD2, G908R		 C/G Blau syndrome, 186580 (3) 4
chr16:49314041
NOD2, G908R		 C/G Sarcoidosis, early-onset, 609464 (3) 4
chr16:49314041
NOD2, G908R		 C/G {Crohn disease, susceptibility to}, 266600 (3) 4
chr16:49314041
NOD2, G908R		 C/G {Psoriatic arthritis, susceptibility to}, 607507 (3) 4
chr16:79687323
GCSH, S21L		 A/A Glycine encephalopathy, 605899 (3) 4
chr16:87025722
ZNF469, P1420L		 T/T Brittle cornea syndrome, 229200 (3) 4
chr16:87028535
ZNF469, G2358R		 C/G Brittle cornea syndrome, 229200 (3) 4
chr16:87029472
ZNF469, L2670Q		 A/T Brittle cornea syndrome, 229200 (3) 3
chr16:88513618
MC1R, R151C		 T/C [Analgesia from kappa-opioid receptor agonist, female-specific] (3) 5
chr16:88513618
MC1R, R151C		 T/C [Skin/hair/eye pigmentation 2, blond hair/fair skin], 226300 (3) 5
chr16:88513618
MC1R, R151C		 T/C [Skin/hair/eye pigmentation 2, red hair/fair skin], 226300 (3) 5
chr16:88513618
MC1R, R151C		 T/C {Melanoma susceptibility to}, 155600 (3) 5
chr16:88513618
MC1R, R151C		 T/C {Oculocutaneous albinism, type II, modifier of}, 203200 (3) 5
chr16:88513618
MC1R, R151C		 T/C {UV-induced skin damage}, 266300 (3) 5
chr17:7520197
TP53, P72R		 C/G Adrenal cortical carcinoma, 202300 (3) 3
chr17:7520197
TP53, P72R		 C/G Breast cancer, 114480 (3) 3
chr17:7520197
TP53, P72R		 C/G Choroid plexus papilloma, 260500 (3) 3
chr17:7520197
TP53, P72R		 C/G Colorectal cancer, 114500 (3) 3
chr17:7520197
TP53, P72R		 C/G Hepatocellular carcinoma, 114550 (3) 3
chr17:7520197
TP53, P72R		 C/G Li-Fraumeni syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/G Li-Fraumeni-like syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/G Nasopharyngeal carcinoma, 161550 (3) 3
chr17:7520197
TP53, P72R		 C/G Osteosarcoma, 259500 (3) 3
chr17:7520197
TP53, P72R		 C/G Pancreatic cancer, 260350 (3) 3
chr17:10238383
MYH8, W1692R		 G/A Carney complex variant, 608837 (3) 4
chr17:10238383
MYH8, W1692R		 G/A Trismus-pseudocamptodactyly syndrome, 158300 (3) 4
chr17:16783716
TNFRSF13B, P251L		 A/G Common variable immunodeficiency, 240500 (3) 4
chr17:16783716
TNFRSF13B, P251L		 A/G Immunoglobulin A deficiency, 609529 (3) 4
chr17:17987623
MYO15A, C1977R		 C/C Deafness, autosomal recessive 3, 600316 (3) 5
chr17:17987914
MYO15A, G2018R		 A/G Deafness, autosomal recessive 3, 600316 (3) 4
chr17:23120724
NOS2, S608L		 A/G {Hypertension, susceptibility to}, 145500 (2) 4
chr17:23120724
NOS2, S608L		 A/G {Malaria, resistance to}, 611162 (3) 4
chr17:36232062
KRT10, I101S		 C/C Epidermolytic hyperkeratosis, 113800 (3) 4
chr17:36232062
KRT10, I101S		 C/C Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) 4
chr17:36232062
KRT10, I101S		 C/C Nevus, epidermal, epidermolytic hyperkeratotic type, 600648 (3) 4
chr17:37022346
KRT16, R41C		 A/G Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3) 5
chr17:37022346
KRT16, R41C		 A/G Palmoplantar keratoderma, nonepidermolytic, 600962 (3) 5
chr17:37022346
KRT16, R41C		 A/G Palmoplantar verrucous nevus, unilateral, 144200 (3) 5
chr17:37949759
NAGLU, R737G		 G/C Sanfilippo syndrome, type B, 252920 (3) 4
chr17:38497961
BRCA1, E1038G		 C/T {Breast-ovarian cancer, familial, 1}, 604370 (3) 4
chr17:38498462
BRCA1, P824L		 A/G {Breast-ovarian cancer, familial, 1}, 604370 (3) 4
chr17:39808591
ITGA2B, I874S		 C/C Glanzmann thrombasthenia, type A, 273800 (3) 4
chr17:39808591
ITGA2B, I874S		 C/C Thrombocytopenia, neonatal alloimmune (1) 4
chr17:41416612
MAPT, P202L		 T/C Dementia, frontotemporal, with or without parkinsonism, 600274 (3) 4
chr17:41416612
MAPT, P202L		 T/C Parkinson disease, 168600 (3) 4
chr17:41416612
MAPT, P202L		 T/C Pick disease, 172700 (3) 4
chr17:41416612
MAPT, P202L		 T/C Supranuclear palsy, progressive atypical, 260540 (3) 4
chr17:41416612
MAPT, P202L		 T/C Supranuclear palsy, progressive, 601104 (3) 4
chr17:41416612
MAPT, P202L		 T/C Tauopathy and respiratory failure (3) 4
chr17:41417115
MAPT, R370W		 T/C Dementia, frontotemporal, with or without parkinsonism, 600274 (3) 4
chr17:41417115
MAPT, R370W		 T/C Parkinson disease, 168600 (3) 4
chr17:41417115
MAPT, R370W		 T/C Pick disease, 172700 (3) 4
chr17:41417115
MAPT, R370W		 T/C Supranuclear palsy, progressive atypical, 260540 (3) 4
chr17:41417115
MAPT, R370W		 T/C Supranuclear palsy, progressive, 601104 (3) 4
chr17:41417115
MAPT, R370W		 T/C Tauopathy and respiratory failure (3) 4
chr17:70427477
USH1G, P350R		 C/G Usher syndrome, type 1G, 606943 (3) 3
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa of hands and feet, 131800 (3) 4
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) 4
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) 4
chr17:72910093
SEPT9, P127L		 T/C Amyotrophy, hereditary neuralgic, 162100 (3) 4
chr17:72910093
SEPT9, P127L		 T/C Leukemia, acute myeloid, therapy-related (1) 4
chr17:72910093
SEPT9, P127L		 T/C Ovarian carcinoma (1) 4
chr18:19678989
LAMA3, P1208T		 A/A Epidermolysis bullosa, generalized atrophic benign, 226650 (3) 3
chr18:19678989
LAMA3, P1208T		 A/A Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) 3
chr18:19678989
LAMA3, P1208T		 A/A Laryngoonychocutaneous syndrome, 245660 (3) 3
chr18:19737949
LAMA3, K2069*		 T/A Epidermolysis bullosa, generalized atrophic benign, 226650 (3) 10
chr18:19737949
LAMA3, K2069*		 T/A Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) 10
chr18:19737949
LAMA3, K2069*		 T/A Laryngoonychocutaneous syndrome, 245660 (3) 10
chr18:26866227
DSC3, A28D		 T/G Arrhythmogenic right ventricular dysplasia, familial, 11, 610476 (3) 3
chr18:27237527
DSG4, P523L		 T/C Hypotrichosis, localized, autosomal recessive, 607903 (3) 4
chr18:27355118
DSG2, R146L		 T/G Arrhythmogenic right ventricular dysplasia, familial, 10, 610193 (3) 4
chr18:40786691
SETBP1, P1130T		 A/C Leukemia, acute T-cell lymphoblastic (3) 3
chr19:871642
KISS1R, L364H		 A/A Hypogonadotropic hypogonadism, 146110 (3) 4
chr19:871642
KISS1R, L364H		 A/A Precocious puberty, central, 176400 (3) 4
chr19:1339538
NDUFS7, P23L		 T/C Leigh syndrome, 256000 (3) 4
chr19:2200477
AMH, S49I		 T/T Persistent Mullerian duct syndrome, type I, 261550 (3) 4
chr19:5795649
FUT3, R68W		 A/G [Blood group, Lewis] (3) 4
chr19:6664262
C3, P314L		 A/G C3 deficiency (3) 4
chr19:6664262
C3, P314L		 A/G {Macular degeneration, age-related, 9}, 611378 (3) 4
chr19:6669387
C3, R102G		 C/G C3 deficiency (3) 4
chr19:6669387
C3, R102G		 C/G {Macular degeneration, age-related, 9}, 611378 (3) 4
chr19:40995504
PRODH2, P91R		 C/G Hyperprolinemia, type I, 239500 (3) 3
chr19:40995504
PRODH2, P91R		 C/G {Schizophrenia, susceptibility to, 4}, 600850 (3) 3
chr19:44685400
DLL3, F172C		 G/T Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) 3
chr19:44686551
DLL3, L218P		 C/T Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3) 4
chr19:45592705
PRX, G1132R		 T/T Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3) 4
chr19:45592851
PRX, P1083R		 C/G Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3) 3
chr19:46550716
TGFB1, R25P		 G/C Camurati-Engelmann disease, 131300 (3) 3
chr19:46550716
TGFB1, R25P		 G/C Cystic fibrosis lung disease, modifier of, 219700 (3) 3
chr19:46550761
TGFB1, P10L		 A/G Camurati-Engelmann disease, 131300 (3) 4
chr19:46550761
TGFB1, P10L		 A/G Cystic fibrosis lung disease, modifier of, 219700 (3) 4
chr19:46608389
BCKDHA, P39H		 A/C Maple syrup urine disease, type Ia, 248600 (3) 3
chr19:50103781
APOE, C130R		 C/T Alzheimer disease-2, 104310 (3) 5
chr19:50103781
APOE, C130R		 C/T Hyperlipoproteinemia, type III (3) 5
chr19:50103781
APOE, C130R		 C/T Lipoprotein glomerulopathy, 611771 (3) 5
chr19:50103781
APOE, C130R		 C/T Sea-blue histiocyte disease, 269600 (3) 5
chr19:50103781
APOE, C130R		 C/T {Macular degeneration, age-related}, 603075 (3) 5
chr19:50103781
APOE, C130R		 C/T {Myocardial infarction susceptibility} (3) 5
chr19:50103919
APOE, R176C		 T/C Alzheimer disease-2, 104310 (3) 5
chr19:50103919
APOE, R176C		 T/C Hyperlipoproteinemia, type III (3) 5
chr19:50103919
APOE, R176C		 T/C Lipoprotein glomerulopathy, 611771 (3) 5
chr19:50103919
APOE, R176C		 T/C Sea-blue histiocyte disease, 269600 (3) 5
chr19:50103919
APOE, R176C		 T/C {Macular degeneration, age-related}, 603075 (3) 5
chr19:50103919
APOE, R176C		 T/C {Myocardial infarction susceptibility} (3) 5
chr19:53898486
FUT2, W154*		 A/A [Bombay phenotype] (3) 10
chr19:53898486
FUT2, W154*		 A/A {Norwalk virus infection, resistance to} (3) 10
chr19:53898486
FUT2, W154*		 A/A {Vitamin B12 plasma level QTL1}, 612542 (3) 10
chr19:60019772
KIR3DL1, S2L		 T/C {AIDS, delayed/rapid progression to}, 609423 (3) 4
chr19:60023099
KIR3DL1, G159W		 T/G {AIDS, delayed/rapid progression to}, 609423 (3) 5
chr19:60023184
KIR3DL1, L187R		 G/T {AIDS, delayed/rapid progression to}, 609423 (3) 4
chr20:44075813
MMP9, R574P		 C/C {Lumbar disc herniation, susceptibility to}, 603932 (3) 3
chr20:49840909
SALL4, L507R		 C/A Duane-radial ray syndrome, 607323 (3) 4
chr20:49840909
SALL4, L507R		 C/A IVIC syndrome, 147750 (3) 4
chr22:17292678
PRODH, W185R		 G/A Hyperprolinemia, type I, 239500 (3) 4
chr22:17292678
PRODH, W185R		 G/A {Schizophrenia, susceptibility to, 4}, 600850 (3) 4
chr22:25192212
HPS4, E224G		 C/C Hermansky-Pudlak syndrome 4, 203300 (3) 4
chr22:29341610
TCN2, R259P		 C/G Transcobalamin II deficiency (3) 3
chr22:34917650
APOL4, Y155C		 C/C {Schizophrenia}, 181500 (1) 4
chr22:36460418
TRIOBP, W1377R		 C/C Deafness, autosomal recessive 28, 609823 (3) 4
chr22:48857970
MLC1, C171F		 A/C Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) 3
chrX:2734760
XG, L131P		 C [Blood group, XG system] (3) 4
chrX:32413115
DMD, D759G		 C Becker muscular dystrophy, 300376 (3) 3
chrX:32413115
DMD, D759G		 C Cardiomyopathy, dilated, 3B, 302045 (3) 3
chrX:32413115
DMD, D759G		 C Duchenne muscular dystrophy, 310200 (3) 3