Find and classify phenotypic correlations for variations in whole genomes

George Church

Boston MA USA
male
cell line 20431
CGI/PGP

Download:
→ source data
→ nsSNPs

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

OMIM (99)

Coordinates
Gene, amino acid change
 Genotype
Trait-associated allele
Associated trait
chr1:46643348
FAAH, P129T		 C/A
A		 DRUG ADDICTION, SUSCEPTIBILITY TO
chr1:65809029
LEPR, K109R		 A/G
G		 LEPTIN RECEPTOR POLYMORPHISM
chr1:65831101
LEPR, Q223R		 A/G
G		 LEPTIN RECEPTOR POLYMORPHISM
chr1:98121473
DPYD, C29R		 G/A
G		 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
chr1:114179091
PTPN22, R620W		 A/G
A		 ADDISON DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr1:114179091
PTPN22, R620W		 A/G
A		 DIABETES MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr1:114179091
PTPN22, R620W		 A/G
A		 HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO, INCLUDED
chr1:114179091
PTPN22, R620W		 A/G
A		 RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO, INCLUDED
chr1:114179091
PTPN22, R620W		 A/G
A		 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, INCLUDED
chr1:152693594
IL6R, D358A		 C/C
C		 INTERLEUKIN-6 SOLUBLE RECEPTOR, SERUM LEVEL OF
chr1:180821180
RNASEL, R462Q		 C/T
T		 PROSTATE CANCER, SUSCEPTIBILITY TO
chr1:221351823
TLR5, R392*		 G/A
A		 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
chr1:221351823
TLR5, R392*		 G/A
A		 SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED
chr1:224086256
EPHX1, Y113H		 T/C
C		 EMPHYSEMA, SUSCEPTIBILITY TO, INCLUDED
chr1:224086256
EPHX1, Y113H		 T/C
C		 LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO
chr1:224086256
EPHX1, Y113H		 T/C
C		 PREECLAMPSIA, SUSCEPTIBILITY TO, INCLUDED
chr1:224086256
EPHX1, Y113H		 T/C
C		 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO, INCLUDED
chr2:47496961
MSH2, G322D		 G/A
A		 MSH2 POLYMORPHISM
chr2:49043425
FSHR, N680S		 C/T
C		 OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF, INCLUDED
chr2:49043425
FSHR, N680S		 C/T
C		 OVARIAN RESPONSE TO FSH STIMULATION
chr2:49044545
FSHR, T307A		 C/T
C		 OVARIAN RESPONSE TO FSH STIMULATION
chr2:230758959
SP110, L425S		 G/G
G		 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
chr2:233848107
ATG16L1, T300A		 A/G
G		 INFLAMMATORY BOWEL DISEASE 10, SUSCEPTIBILITY TO
chr3:115373505
DRD3, S9G		 C/T
C		 ESSENTIAL TREMOR, SUSCEPTIBILITY TO, INCLUDED
chr3:115373505
DRD3, S9G		 C/T
C		 SCHIZOPHRENIA, SUSCEPTIBILITY TO
chr4:38475043
TLR1, I602S		 C/A
C		 LEPROSY, PROTECTION AGAINST
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
chr5:74017026
HEXB, S62L		 T/C
T		 SANDHOFF DISEASE, INFANTILE TYPE
chr5:131704219
SLC22A4, L503F		 C/T
T		 SLC22A4 POLYMORPHISM
chr5:147461148
SPINK5, E420K		 A/G
A		 ASTHMA, SUSCEPTIBILITY TO, INCLUDED
chr5:147461148
SPINK5, E420K		 A/G
A		 ATOPY, SUSCEPTIBILITY TO
chr5:147461148
SPINK5, E420K		 A/G
A		 DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO, INCLUDED
chr6:16398740
GMPR, F256I		 A/A
A		 GMP REDUCTASE POLYMORPHISM
chr6:26199158
HFE, H63D		 C/G
G		 HEMOCHROMATOSIS
chr6:26199158
HFE, H63D		 C/G
G		 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7, INCLUDED
chr6:32022159
CFB, R32Q		 G/A
A		 MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
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
chr7:30918183
AQP1, A45V		 C/T
T		 COLTON BLOOD GROUP POLYMORPHISM
chr7:34784638
NPSR1, N107I		 A/T
T		 ASTHMA SUSCEPTIBILITY 2
chr7:94784020
PON1, L55M		 A/T
T		 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr7:94784020
PON1, L55M		 A/T
T		 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5, INCLUDED
chr7:94784020
PON1, L55M		 A/T
T		 PON1 ENZYME ACTIVITY, VARIATION IN
chr7:116986769
CFTR, M470V		 G/A
G		 CFTR POLYMORPHISM
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
chr8:18302134
NAT2, I114T		 T/C
C		 ACETYLATION, SLOW
chr8:18302596
NAT2, K268R		 G/A
G		 ACETYLATION, SLOW
chr8:55701948
RP1, N985Y		 T/T
T		 HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr8:118253964
SLC30A8, R325W		 C/T
T		 DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr10:70311866
STOX1, Y153H		 C/C
C		 PREECLAMPSIA/ECLAMPSIA 4
chr10:96692037
CYP2C9, R144C		 C/T
T		 WARFARIN SENSITIVITY
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
chr11:68611939
TPCN2, G734E		 A/A
A		 SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
chr11:88551344
TYR, S192Y		 A/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
chr11:88551344
TYR, S192Y		 A/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
chr12:9123535
A2M, V1000I		 T/C
T		 ALPHA-2-MACROGLOBULIN POLYMORPHISM
chr12:9123535
A2M, V1000I		 T/C
T		 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr12:14884706
ART4, N265D		 C/T
C		 DOMBROCK BLOOD GROUP
chr12:119921765
HNF1A, G574S		 A/G
A		 HEPATIC ADENOMA
chr13:107661592
LIG4, T9I		 G/A
A		 MULTIPLE MYELOMA, RESISTANCE TO
chr13:107661610
LIG4, A3V		 G/A
A		 MULTIPLE MYELOMA, RESISTANCE TO
chr14:20010446
NP, S51G		 G/A
G		 NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM
chr14:103235506
XRCC3, T241M		 G/A
A		 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
chr15:48665922
TRPM7, T1482I		 G/A
A		 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO
chr15:63281265
CILP, I395T		 A/G
G		 LUMBAR DISC DISEASE, SUSCEPTIBILITY TO
chr16:3647748
DNASE1, Q244R		 G/A
G		 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
chr16:68302646
NQO1, P187S		 G/A
A		 BENZENE TOXICITY, SUSCEPTIBILITY TO
chr16:68302646
NQO1, P187S		 G/A
A		 BREAST CANCER, POST-CHEMOTHERAPY POOR SURVIVAL IN, INCLUDED
chr16:68302646
NQO1, P187S		 G/A
A		 LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO, INCLUDED
chr16:87240737
CYBA, H72Y		 A/G
A		 CYBA POLYMORPHISM 242C-T
chr16:88513345
MC1R, V60L		 G/T
T		 SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN
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
chr17:7520197
TP53, P72R		 C/C
C		 CODON 72 POLYMORPHISM
chr17:19753133
AKAP10, I646V		 T/C
C		 CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
chr17:59804699
PECAM1, L125V		 C/C
C		 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
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
chr19:50014584
BCAM, T539A		 A/G
G		 AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
chr20:42688634
ADA, K80R		 T/C
C		 B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
chr20:42688634
ADA, K80R		 T/C
C		 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
chr20:44073632
MMP9, Q279R		 A/G
G		 LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
chr21:33562658
IL10RB, E47K		 A/G
A		 HEPATITIS B VIRUS, SUSCEPTIBILITY TO
chr22:18331271
COMT, V158M		 A/A
A		 CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
chr22:49411282
ARSA, N350S		 T/C
C		 ARYLSULFATASE A POLYMORPHISM

SNPedia (296)

Coordinates
Function
 Genotype
Associated trait
chr1:2536089
(Not computed)		 A/G 1.2x risk (rheumatoid arthritis)
chr1:11778965
(Not computed)		 A/G multiple, incl 1.17x for gastric cancer, also lung cancer (consider taking folate)
chr1:11833264
(Not computed)		 A/G lower blood pressure
chr1:16312979
(Not computed)		 T/T ~2x increased risk for cataracts
chr1:28083990
(Not computed)		 G/G slightly reduced breast cancer odds?
chr1:41717277
(Not computed)		 C/T AF risk in HCM patients (only)
chr1:59475385
(Not computed)		 C/T 1.2x increased risk for ALS
chr1:59476570
(Not computed)		 A/G 1.2x increased risk for ALS
chr1:67460937
(Not computed)		 C/C 0.83x lower risk for spondylitis
chr1:67491717
(Not computed)		 A/G 0.8x lower risk for spondylitis
chr1:67497708
(Not computed)		 A/C 1.5x risk for certain autoimmune diseases; 2x risk for Graves disease
chr1:67512680
(Not computed)		 A/G 1.3x higher risk for spondylitis
chr1:67526096
(Not computed)		 C/T 1.2x higher 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)
chr1:93167966
(Not computed)		 C/T 1.11x risk (multiple sclerosis)
chr1:109623689
(Not computed)		 A/A 1.29x increased risk for heart disease
chr1:114179091
(Not computed)		 A/G 2x risk for T1D, RA, Addison's
chr1:118766777
(Not computed)		 A/C 5.0x increased thyroid cancer risk
chr1:160297312
(Not computed)		 C/G average QT interval
chr1:160300514
(Not computed)		 C/T 4.4ms QT interval duration increase on average
chr1:160301898
(Not computed)		 C/T 1.3x increased risk for sudden cardiac death in Caucasians
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)		 C/T 1.5x increased prostate cancer risk
chr1:201176597
(Not computed)		 C/G 0.59x decreased breast cancer risk
chr1:205013257
(Not computed)		 A/G 0.5x decreased risk for endometriosis
chr1:205013520
(Not computed)		 C/T 1.6x increased prostate cancer risk
chr1:208055893
(Not computed)		 A/G 1.9x risk of cleft lip
chr1:212897240
(Not computed)		 A/G poorer survival rate if breast cancer patient
chr1:224621925
(Not computed)		 A/G 0.80x reduced risk for glioblastoma
chr1:228912417
(Not computed)		 A/G increased risk of hypertension
chr1:228915454
(Not computed)		 C/T increased risk for preeclamppsia
chr1:228916495
(Not computed)		 C/T increased risk for hypertension
chr1:237503165
(Not computed)		 A/T 1.5x risk (high blood pressure)
chr1:238512219
(Not computed)		 C/T 0.7x risk (heart disease)
chr2:11807879
(Not computed)		 G/G if diabetic, better response to rosiglitazone
chr2:11954943
(Not computed)		 A/A 1.5x risk (bipolar disorder)
chr2:21085700
(Not computed)		 A/G elevated lipids
chr2:27594741
(Not computed)		 C/T metabolic consequences
chr2:37449029
(Not computed)		 A/G 1.26x risk for lower bone mineral density
chr2:68424276
(Not computed)		 C/C lowest sphingomyelin values
chr2:85662493
(Not computed)		 C/T 1.75x risk of MI
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/C 1.9x risk (type-2 diabetes)
chr2:168724160
(Not computed)		 C/T slightly higher blood pressure if Caucasian
chr2:168749632
(Not computed)		 G/T slightly higher blood pressure if Caucasian
chr2:169465787
(Not computed)		 A/G higher insulinogenic index in obese children
chr2:182082779
(Not computed)		 A/G 1.3x increased autism risk
chr2:198339959
(Not computed)		 A/G ~1.18x increased risk of aneurysm
chr2:216680977
(Not computed)		 G/T slightly increased risk of bladder cancer
chr2:220150734
(Not computed)		 C/T 1.3x increased risk for testicular 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/G 1.8x risk (bipolar disorder)
chr3:9773773
(Not computed)		 C/G normal for bladder cancer risk; 1.9x increased risk for gallbladder cancer
chr3:28679467
(Not computed)		 G/G Homozygous major
chr3:49676987
(Not computed)		 A/A 1.8x risk (Crohn's disease)
chr3:53526942
(Not computed)		 G/G better response to certain calcium channel blockers
chr3:55288440
(Not computed)		 C/C 1.8x risk of type-2 diabetes
chr3:107394820
(Not computed)		 C/T 1.09x increased risk for multiple sclerosis
chr3:143764302
(Not computed)		 G/G poorer response to pancreatic cancer combined treatment
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
chr3:188042168
(Not computed)		 C/G 0.73x decreased risk for colorectal cancer
chr4:9531265
(Not computed)		 C/T 1.7x risk of gout
chr4:9545008
(Not computed)		 A/G 0.62x decreased risk for gout
chr4:9575478
(Not computed)		 A/G ~2x higher risk for hyperuracemia
chr4:9603313
(Not computed)		 C/T ~2x higher risk for hyperuracemia
chr4:12619085
(Not computed)		 A/G 1.18x risk for breast cancer
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
chr4:56016574
(Not computed)		 G/G 1.8x higher risk for obesity if in haplotype
chr4:56108560
(Not computed)		 A/A 1.8x higher risk for obesity if in haplotype
chr4:56837794
(Not computed)		 C/T somewhat higher risk for prostate cancer
chr4:100458342
(Not computed)		 C/T 0.56x decreased risk of oral/throat cancers
chr4:103663504
(Not computed)		 C/T 2x increased risk for Hodgkin lymphoma
chr4:111940210
(Not computed)		 G/T 1.4x increased risk of atrial fibrillation and ischemic stroke
chr4:122884964
(Not computed)		 C/T 1.4x risk (type-2 diabetes)
chr4:164476185
(Not computed)		 G/G more likely to gain weight if taking risperidone
chr5:33987450
(Not computed)		 G/G generally European
chr5:35910332
(Not computed)		 C/T 1.3x increased risk for multiple sclerosis
chr5:35912031
(Not computed)		 A/G 1.12x risk (type-1 diabetes)
chr5:40437266
(Not computed)		 G/T 1.5x risk (Crohn's disease)
chr5:40450824
(Not computed)		 T/T increased risk for Crohn's disease
chr5:59538277
(Not computed)		 A/G 1.5x increased stroke risk
chr5:86435018
(Not computed)		 C/C 1.6x risk (type-1 diabetes)
chr5:96144608
(Not computed)		 C/G 1.4x higher risk for spondylitis
chr5:96150086
(Not computed)		 C/T 1.4x higher risk for spondylitis
chr5:99976881
(Not computed)		 T/T 1.9x risk (heart disease)
chr5:126711708
(Not computed)		 A/A somewhat increased risk for schizophrenia
chr5:131704219
(Not computed)		 C/T 2.1x increased risk of Crohn's disease
chr5:131770127
(Not computed)		 C/C 2x risk (Crohn's disease)
chr5:132037053
(Not computed)		 C/T 0.6x decreased risk for myocardial infarction if younger than 50
chr5:141007068
(Not computed)		 C/T somewhat higher risk for prostate cancer
chr5:159844996
(Not computed)		 C/G higher/earlier cancer likelihood??
chr6:6533880
(Not computed)		 A/C increased risk
chr6:20836710
(Not computed)		 C/C 1.9x risk (Crohn's disease)
chr6:24315179
(Not computed)		 A/G increased risk (dyslexia)
chr6:24381770
(Not computed)		 A/G increased risk (dyslexia)
chr6:24740621
(Not computed)		 C/C higher risk for dyslexia
chr6:25978521
(Not computed)		 A/T 0.85x decreased gout risk
chr6:31382359
(Not computed)		 C/C 90% reduction in HIV viral load
chr6:31650455
(Not computed)		 A/C 1.8x increased lupus risk
chr6:32471794
(Not computed)		 C/T increased risk for sarcoidosis
chr6:32771829
(Not computed)		 C/T 2.3x risk of rheumatoid arthritis
chr6:32904663
(Not computed)		 G/G 2.14x increased risk for Alzheimer's
chr6:35656214
(Not computed)		 A/G 0.68x decreased risk for bipolar disorder
chr6:38440588
(Not computed)		 C/T 0.76x risk for restless legs
chr6:38469090
(Not computed)		 C/T 0.61x risk for restless legs
chr6:38473819
(Not computed)		 C/T 0.62x risk for restless legs
chr6:38473851
(Not computed)		 C/T 0.63x risk for restless legs
chr6:43860514
(Not computed)		 C/T 2.6x increased risk for ARMD
chr6:45497267
(Not computed)		 C/T higher bone mineral density in postmenopausal Spanish women
chr6:52158992
(Not computed)		 A/G 1.4x increased gastric cancer risk
chr6:55250296
(Not computed)		 G/G 2-6x increased risk for cluster headaches
chr6:96161656
(Not computed)		 A/C 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
chr6:138126941
(Not computed)		 C/T 1.2x risk (Crohn's disease)
chr6:149763383
(Not computed)		 A/A MET/MET increased [[diabetes]] susceptibility
chr6:151294678
(Not computed)		 A/A 1.6x risk (heart disease)
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
chr6:169359651
(Not computed)		 A/C slightly increased heart attack risk
chr7:44195593
(Not computed)		 C/T 1.3x increased risk for T2D
chr7:75236934
(Not computed)		 C/C 4.6x risk
chr7:87017537
(Not computed)		 A/G may require more methadone during heroin withdrawal
chr7:94784020
(Not computed)		 A/T higher risk for heart disease, diabetic retinopathy
chr7:94791831
(Not computed)		 A/G intermediate arylesterase activity
chr7:94791885
(Not computed)		 C/T less likely to gain weight if taking risperidone
chr7:116986769
(Not computed)		 A/G 1.1x risk (type-1 diabetes)
chr7:128381961
(Not computed)		 T/T 1.4x increased risk of SLE
chr7:136339536
(Not computed)		 A/G somewhat higher IQ
chr7:141319174
(Not computed)		 A/A possible unable to taste bitter
chr7:146120539
(Not computed)		 T/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
chr7:147232705
(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)
chr7:150327044
(Not computed)		 G/T increased risk of preeclampsia
chr7:153836827
(Not computed)		 C/C >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
chr8:34356534
(Not computed)		 C/T 1.5x risk (bipolar disorder)
chr8:118253964
(Not computed)		 C/T increased risk for type-2 diabetes
chr8:118254206
(Not computed)		 A/G 1.16x increased risk for type-2 diabetes
chr8:128787250
(Not computed)		 G/T 1.2x increased bladder cancer risk
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
chr9:119509875
(Not computed)		 A/G 0.88x lower risk of nonfatal myocardial infarction
chr9:119520633
(Not computed)		 C/T increased risk for chorionic plate inflammation
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
chr9:123467194
(Not computed)		 T/T >1.36x risk for prostate cancer
chr9:136465643
(Not computed)		 C/C decreased risk of Alzheimer's disease
chr9:139032305
(Not computed)		 A/G 3.8x increased risk for early-onset Alzheimers
chr10:42926693
(Not computed)		 A/G 10% smaller kidneys as newborns
chr10:43388564
(Not computed)		 A/C 1.3x risk (type-2 diabetes)
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)
chr10:68605491
(Not computed)		 C/T 1.18x increased risk for LOAD
chr10:69313348
(Not computed)		 C/C average/normal
chr10:70122477
(Not computed)		 C/T 1.29x increased risk for LOAD
chr10:81916682
(Not computed)		 A/G 0.62x reduced risk for sarcoidosis
chr10:94169008
(Not computed)		 C/T higher risk for PCOS?
chr10:96692037
(Not computed)		 C/T CYP2C9*2 carrier; average 20% reduction in warfarin metabolism
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
chr10:135190538
(Not computed)		 A/G carrier of one CYP2E1*7_-352A>G allele
chr10:135190557
(Not computed)		 A/T carrier of one CYP2E1*7_-333T>A allele
chr10:135198534
(Not computed)		 A/T carrier of one CYP2E1_marker9 allele
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
chr11:8080075
(Not computed)		 A/G 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
chr11:57134901
(Not computed)		 C/T 0.63x decreased age-related macular degeneration risk
chr11:61309256
(Not computed)		 G/T common; higher LDL-C and total cholesterol
chr11:61327924
(Not computed)		 C/G intermediate phosphatidylcholine values
chr11:61354548
(Not computed)		 A/G 4+ IQ points for breastfeeding
chr11:65161876
(Not computed)		 A/G 2.15x more likely positive lymph node
chr11:88551344
(Not computed)		 A/A associated with the absence of freckles
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
chr11:130255852
(Not computed)		 C/C increased risk of coronary heart disease; better response to statins
chr12:6825136
(Not computed)		 C/T (some risk; see details)
chr12:9123535
(Not computed)		 C/T possibly increased risk for Alzheimers
chr12:10203556
(Not computed)		 A/G increased risk for Alzheimer's
chr12:10416632
(Not computed)		 C/C 0.48x reduced risk for colorectal cancer
chr12:46586093
(Not computed)		 C/T if less milk in teenage females, less bone?
chr12:64644614
(Not computed)		 C/T ~0.4cm taller
chr12:67488847
(Not computed)		 G/T generally more cancer prone
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)
chr12:110368991
(Not computed)		 C/T increased risk for celiac disease
chr12:110971201
(Not computed)		 A/G 1.3x risk (type-1 diabetes)
chr13:19848092
(Not computed)		 A/G 1.3x risk (rheumatoid arthritis)
chr13:30210096
(Not computed)		 A/T 1.24x increased stroke risk for males
chr13:32521164
(Not computed)		 A/G 2.6x risk for priapism in SCA patients
chr13:46309986
(Not computed)		 G/G ~18% less likely to respond to citalopram
chr14:60168436
(Not computed)		 C/C 0.63x reduced risk for intracranial aneurysm
chr14:63833406
(Not computed)		 G/G 1.2x increased risk of prostate cancer
chr14:94150556
(Not computed)		 A/A 2.5x increased risk of Azheimer's and decreased age at onset
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/T usually brown eye color
chr15:26186959
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:30183749
(Not computed)		 T/T in ALZ patients, increased risk of delusions
chr15:56534122
(Not computed)		 C/C >1.3x risk for ALS
chr15:63281265
(Not computed)		 A/G higher risk of LDD
chr15:65245693
(Not computed)		 C/C >1.26x increased risk for heart disease
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
chr15:77942037
(Not computed)		 C/T 1.2x increased risk for chronic kidney disease
chr15:78200439
(Not computed)		 G/G 1.47x risk (type-2 diabetes)
chr16:11077184
(Not computed)		 G/T 1.2x increased type-1 diabetes risk; 1.2x increased multiple sclerosis risk (type-1 diabetes)
chr16:11087374
(Not computed)		 A/G 1.2x risk (type-1 diabetes)
chr16:11156830
(Not computed)		 A/G 1.14x risk (multiple sclerosis)
chr16:49297083
(Not computed)		 G/G 1.9x risk (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
chr16:67328535
(Not computed)		 A/C 1.5-1.7x increased risk of prostate cancer
chr16:79822098
(Not computed)		 G/T higher beta-carotene levels
chr16:81769899
(Not computed)		 G/T 1.9x risk (heart disease)
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)		 C/T 1.5x increased risk of wet ARMD
chr17:17656042
(Not computed)		 C/G 1.08x increased risk for T2D
chr17:29603901
(Not computed)		 A/G increased risk of exercise induced ischemia
chr17:41375573
(Not computed)		 G/G may be part of gs124
chr17:42715729
(Not computed)		 C/T MI risk, aspirin resistance
chr17:43163827
(Not computed)		 C/T 2.1x risk for AIA
chr17:43177091
(Not computed)		 C/T possible risk for allergic asthma
chr17:43180499
(Not computed)		 A/G possible risk for allergic asthma
chr17:53713761
(Not computed)		 C/T 0.8x decreased risk for lung cancer among smokers; increased gastric cancer risk (lupus)
chr17:58920456
(Not computed)		 A/G slower responder
chr17:58926075
(Not computed)		 C/T slower responder
chr18:12769947
(Not computed)		 G/T 1.3x risk for Crohn's; 1.3x for T1D
chr18:44707461
(Not computed)		 C/C 0.73x decreased risk for colorectal cancer
chr18:54155144
(Not computed)		 C/T 1.3x increased risk for hypertension
chr18:56002077
(Not computed)		 C/C adults likely to be 0.44 BMI units higher
chr18:56002743
(Not computed)		 G/G adults likely to be 0.44 BMI units higher
chr18:56035730
(Not computed)		 A/A adult waist 1.8cm larger on average
chr18:65682622
(Not computed)		 C/T somewhat increased risk for multiple autoimmune diseases
chr19:1057615
(Not computed)		 C/T 1.3x increased risk of death if diagnosed with breast cancer
chr19:6669387
(Not computed)		 C/G 1.6x risk of ARMD
chr19:10256683
(Not computed)		 A/G 0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; increased malaria risk
chr19:10698677
(Not computed)		 A/A 1.5x increased Alzheimer risk in non-ApoE4 carriers
chr19:11088602
(Not computed)		 C/T normal risk for Alzheimer's; higher total and LDL cholesterol in females
chr19:34756236
(Not computed)		 G/G 1.4x risk (heart disease)
chr19:46552136
(Not computed)		 A/G higher risk for COPD
chr19:46561596
(Not computed)		 T/T higher risk for COPD
chr19:50101007
(Not computed)		 C/G increased risk in men for biliary conditions
chr19:50873232
(Not computed)		 C/G 0.72x risk for heart disease
chr20:3724175
(Not computed)		 T/T 1.3x risk (bipolar disorder)
chr20:10168496
(Not computed)		 A/G 2+ IQ points
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
chr20:32193105
(Not computed)		 G/T 2-4x higher risk of sun sensitivity if part of risk haplotype
chr20:32202273
(Not computed)		 C/T 2-4x higher risk of sun sensitivity if part of risk haplotype
chr20:33228293
(Not computed)		 C/G EPCR H1 haplotype; reduced risk of VTE?
chr20:33370575
(Not computed)		 C/C 0.88cm taller
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
chr21:42427525
(Not computed)		 C/T 1.6x increased risk for high myopia
chr22:18330235
(Not computed)		 T/T higher risk for endometrial cancer
chr22:18331271
(Not computed)		 A/A multiple associations, see details
chr22:21957369
(Not computed)		 G/G 1.4x increased risk for bipolar disorder
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
chr22:40858326
(Not computed)		 C/G carrier of one CYP2D6*2A allele
chr22:42656060
(Not computed)		 C/G increased liver fat

Other hypotheses (469)

Coordinates
Gene, amino acid change
 Genotype
Associated trait
Score
chr1:5849756
NPHP4, P1160L		 A/G Nephronophthisis 4, 606966 (3) 4
chr1:5849756
NPHP4, P1160L		 A/G Senior-Loken syndrome 4, 606996 (3) 4
chr1:6411045
ESPN, L156P		 C/T Deafness, autosomal recessive 36, 609006 (3) 4
chr1:6411045
ESPN, L156P		 C/T Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) 4
chr1:9228032
H6PD, D151A		 C/A Cortisone reductase deficiency, 604931 (3) 3
chr1:9246800
H6PD, P554L		 T/C Cortisone reductase deficiency, 604931 (3) 4
chr1:11013503
MASP2, D371Y		 A/A MASP2 deficiency (3) 5
chr1:16223862
CLCNKA, R83G		 G/G Bartter syndrome, type 4, digenic, 602522 (3) 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
chr1:26004241
SEPN1, C108Y		 A/A Muscular dystrophy, rigid spine, 1, 602771 (3) 4
chr1:27112859
NR0B2, R54C		 A/G Obesity, mild, early-onset, 601665 (3) 5
chr1:46643348
FAAH, P129T		 A/C Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia, 612443 (3) 3
chr1:46643348
FAAH, P129T		 A/C {Drug addiction, susceptibility to} (3) 3
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
chr1:70677388
CTH, S359I		 T/G Cystathioninuria, 219500 (3) 4
chr1:70677388
CTH, S359I		 T/G Homocysteine, total plasma, elevated (3) 4
chr1:98121473
DPYD, R29C		 A/G 5-fluorouracil toxicity, 274270 (3) 5
chr1:98121473
DPYD, R29C		 A/G Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5
chr1:103152506
COL11A1, P1284L		 A/A Marshall syndrome, 154780 (3) 4
chr1:103152506
COL11A1, P1284L		 A/A Stickler syndrome, type II, 604841 (3) 4
chr1:103152506
COL11A1, P1284L		 A/A {Lumbar disc herniation, susceptibility to}, 603932 (3) 4
chr1:114179091
PTPN22, W620R		 G/A {Diabetes, type 1, susceptibility to}, 222100 (3) 4
chr1:114179091
PTPN22, W620R		 G/A {Rheumatoid arthritis, susceptibility to}, 180300 (3) 4
chr1:114179091
PTPN22, W620R		 G/A {Systemic lupus erythematosus susceptibility to}, 152700 (3) 4
chr1:150546353
FLG, G2545R		 T/C Ichthyosis vulgaris, 146700 (3) 4
chr1:150546353
FLG, G2545R		 T/C {Dermatitis, atopic, susceptibility to}, 605803 (3) 4
chr1:150548891
FLG, R1699C		 A/G Ichthyosis vulgaris, 146700 (3) 5
chr1:150548891
FLG, R1699C		 A/G {Dermatitis, atopic, susceptibility to}, 605803 (3) 5
chr1:150552656
FLG, G444R		 T/C Ichthyosis vulgaris, 146700 (3) 4
chr1:150552656
FLG, G444R		 T/C {Dermatitis, atopic, susceptibility to}, 605803 (3) 4
chr1:150552991
FLG, G332V		 A/C Ichthyosis vulgaris, 146700 (3) 5
chr1:150552991
FLG, G332V		 A/C {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
chr1:169349866
FMO3, E308G		 G/A Trimethylaminuria, 602079 (3) 4
chr1:181361170
LAMC1, L888P		 C/C {?Pelvic organ prolapse, susceptibility to}, 176780 (3) 4
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
chr1:221351823
TLR5, R392*		 A/G {Legionaire disease, susceptibility to}, 608556 (3) 10
chr1:221351823
TLR5, R392*		 A/G {Systemic lupus erythematosus, resistance to}, 601744 (3) 10
chr1:221351823
TLR5, R392*		 A/G {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2) 10
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
chr2:21088980
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/G Deafness, autosomal recessive 9, 601071 (3) 5
chr2:29771306
ALK, S289F		 A/G {Neuroblastoma, susceptibility to}, 256700 (3) 3
chr2:47496961
MSH2, G322D		 A/G Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3) 3
chr2:47496961
MSH2, G322D		 A/G Mismatch repair cancer syndrome, 276300 (3) 3
chr2:47496961
MSH2, G322D		 A/G Muir-Torre syndrome, 158320 (3) 3
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
chr2:88664129
EIF2AK3, D566V		 A/T Wolcott-Rallison syndrome, 226980 (3) 5
chr2:108755431
RANBP2, G2692D		 A/G {Encephalopathy, acute necrotizing 1}, 608033 (3) 3
chr2:113601734
IL1RN, S21*		 G/C {Gastric cancer risk after H. pylori infection}, 137215 (3) 10
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
chr2:179191239
TTN, R13163C		 A/G Cardiomyopathy, dilated, 1G, 604145 (3) 5
chr2:179191239
TTN, R13163C		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 5
chr2:179191239
TTN, R13163C		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 5
chr2:179191239
TTN, R13163C		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 5
chr2:179191239
TTN, R13163C		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 5
chr2:179191239
TTN, R13163C		 A/G Tibial muscular dystrophy, tardive, 600334 (3) 5
chr2:179257652
TTN, P9631L		 A/G Cardiomyopathy, dilated, 1G, 604145 (3) 4
chr2:179257652
TTN, P9631L		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 4
chr2:179257652
TTN, P9631L		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 4
chr2:179257652
TTN, P9631L		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 4
chr2:179257652
TTN, P9631L		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 4
chr2:179257652
TTN, P9631L		 A/G 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/G Cardiomyopathy, dilated, 1G, 604145 (3) 4
chr2:179352280
TTN, S1249L		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 4
chr2:179352280
TTN, S1249L		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 4
chr2:179352280
TTN, S1249L		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 4
chr2:179352280
TTN, S1249L		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 4
chr2:179352280
TTN, S1249L		 A/G 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
chr2:227810967
COL4A3, G43R		 C/G Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227810967
COL4A3, G43R		 C/G Hematuria, benign familial, 141200 (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
chr2:227843875
COL4A3, P574L		 T/T Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227843875
COL4A3, P574L		 T/T Hematuria, benign familial, 141200 (3) 4
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
chr3:3145792
TRNT1, P23L		 T/T Deafness, mitochondrial, modifier of, 580000 (3) 4
chr3:4828006
ITPR1, R2381C		 T/C Spinocerebellar ataxia 15, 606658 (3) 5
chr3:14172989
XPC, L591Q		 T/A 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
chr3:49369838
GPX1, P200L		 A/A Hemolytic anemia due to glutathione peroxidase deficiency (1) 4
chr3:122983389
IQCB1, C301Y		 T/C Senior-Loken syndrome 5, 609254 (3) 4
chr3:137499592
PCCB, C291Y		 A/G Propionicacidemia, 606054 (3) 4
chr3:159803397
MLF1, P201T		 A/C Leukemia, acute myeloid, 601626 (1) 3
chr3:184237903
MCCC1, H464P		 G/T 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) 3
chr3:187878130
HRG, R448C		 T/T Thrombophilia due to HRG deficiency (3) 5
chr3:187878130
HRG, R448C		 T/T 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/A Deafness, autosomal dominant 44, 607453 (3) 5
chr4:6353700
WFS1, C426Y		 A/G Hearing loss, low-frequency sensorineural, 600965 (3) 4
chr4:6353700
WFS1, C426Y		 A/G Wolfram syndrome, 222300 (3) 4
chr4:6353700
WFS1, C426Y		 A/G Wolfram-like syndrome, autosomal dominant, 222300 (3) 4
chr4:6353700
WFS1, C426Y		 A/G {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3) 4
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
chr4:25287297
SLC34A2, D634G		 G/A Pulmonary alveolar microlithiasis, 265100 (3) 3
chr4:25287297
SLC34A2, D634G		 G/A Testicular microlithiasis, 610441 (3) (?) 3
chr4:38475043
TLR1, S602I		 A/C {Leprosy, protection against}, 246300 (3) 4
chr4:79206181
FRAS1, D32G		 G/A Fraser syndrome, 219000 (3) 3
chr4:103184066
BANK1, C517R		 C/C {Systemic lupus erythmatosus, association with}, 152700 (3) 5
chr4:122984602
BBS7, D412G		 C/T Bardet-Biedl syndrome 7, 209900 (3) 3
chr4:154845401
TLR2, P631H		 A/C {Colorectal cancer, susceptibility to}, 114500 (3) 3
chr4:154845401
TLR2, P631H		 A/C {Leprosy, susceptibility to}, 246300 (3) 3
chr4:155711164
FGB, D463G		 G/A Afibrinogenemia, congenital, 202400 (3) 3
chr4:155711164
FGB, D463G		 G/A Dysfibrinogenemia, beta type (3) 3
chr4:155711164
FGB, D463G		 G/A Thrombophilia, dysfibrinogenemic (3) 3
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
chr5:34034640
AMACR, L201S		 G/A Alpha-methylacyl-CoA racemase deficiency (3) 4
chr5:34034640
AMACR, L201S		 G/A Bile acid synthesis defect, congenital, 4, 214950 (3) 4
chr5:34040464
AMACR, G175D		 T/C Alpha-methylacyl-CoA racemase deficiency (3) 3
chr5:34040464
AMACR, G175D		 T/C Bile acid synthesis defect, congenital, 4, 214950 (3) 3
chr5:74017026
HEXB, L62S		 C/T Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) 4
chr5:74017026
HEXB, L62S		 C/T Spinal muscular atrophy, juvenile (3) 4
chr5:90052627
GPR98, G3248D		 A/G Convulsions, familial febrile, 4, 604352 (3) 3
chr5:90052627
GPR98, G3248D		 A/G Usher syndrome, type IIC, 605472 (3) 3
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
chr5:149752473
TCOF1, P1099R		 G/C Treacher Collins mandibulofacial dysostosis, 154500 (3) 3
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
chr6:6119865
F13A1, P565L		 A/G Factor XIIIA deficiency (3) 4
chr6:7526031
DSP, R1537C		 T/C Arrhythmogenic right ventricular dysplasia 8, 607450 (3) 5
chr6:7526031
DSP, R1537C		 T/C Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3) 5
chr6:7526031
DSP, R1537C		 T/C Epidermolysis bullosa, lethal acantholytic, 609638 (3) 5
chr6:7526031
DSP, R1537C		 T/C Keratosis palmoplantaris striata II (3) 5
chr6:7526031
DSP, R1537C		 T/C Skin fragility-woolly hair syndrome, 607655 (3) 5
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/T {Dyslexia, susceptibility to, 2}, 600202 (3) 3
chr6:25958824
SLC17A3, G201R		 T/C Glycogen storage disease Ic, 232240 (3) (?) 4
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
chr6:31192142
CDSN, L410S		 G/A Hypotrichosis simplex of scalp, 146520 (3) 4
chr6:31346238
HLA-C, P208H		 T/G {Psoriasis, early onset, susceptibility to}, 177900 (3) 3
chr6:31346909
HLA-C, L180R		 C/C {Psoriasis, early onset, susceptibility to}, 177900 (3) 4
chr6:31346936
HLA-C, L171W		 C/A {Psoriasis, early onset, susceptibility to}, 177900 (3) 4
chr6:31633891
NFKBIL1, R186C		 T/T {Rheumatoid arthritis, susceptibility to}, 180300 (3) 5
chr6:32134085
TNXB, G2518E		 T/T Ehlers-Danlos due to tenascin X deficiency, 606408 (3) 4
chr6:32134085
TNXB, G2518E		 T/T Ehlers-Danlos syndrome, hypermobility type, 130020 (3) 4
chr6:32470723
BTNL2, P379L		 A/G {Sarcoidosis, susceptibility to, 2}, 612387 (3) 4
chr6:32480841
BTNL2, W94R		 T/A {Sarcoidosis, susceptibility to, 2}, 612387 (3) 4
chr6:32717170
HLA-DQA1, E63G		 G/A {Celiac disease, susceptibility to}, 212750 (3) 4
chr6:32717952
HLA-DQA1, I186S		 G/T {Celiac disease, susceptibility to}, 212750 (3) 4
chr6:32904663
TAP2, *687Q		 G/G Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) 10
chr6:32904663
TAP2, *687Q		 G/G Wegener-like granulomatosis (3) 10
chr6:33156664
HLA-DPB1, G113D		 A/G {Beryllium disease, chronic, susceptibility to} (3) 3
chr6:33249258
COL11A2, P787L		 A/G Deafness, autosomal dominant 13, 601868 (3) 4
chr6:33249258
COL11A2, P787L		 A/G Deafness, autosomal recessive 53, 609706 (3) 4
chr6:33249258
COL11A2, P787L		 A/G Otospondylomegaepiphyseal dysplasia, 215150 (3) 4
chr6:33249258
COL11A2, P787L		 A/G Stickler syndrome, type III, 184840 (3) 4
chr6:33249258
COL11A2, P787L		 A/G Weissenbacher-Zweymuller syndrome, 277610 (3) 4
chr6:42774039
PRPH2, D338G		 C/T Butterfly dystrophy, retinal, 169150 (3) 3
chr6:42774039
PRPH2, D338G		 C/T Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3) 3
chr6:42774039
PRPH2, D338G		 C/T Macular dystrophy (3) 3
chr6:42774039
PRPH2, D338G		 C/T Macular dystrophy, vitelliform, 608161 (3) 3
chr6:42774039
PRPH2, D338G		 C/T Retinitis pigmentosa, digenic, 608133 (3) 3
chr6:42774039
PRPH2, D338G		 C/T Retinitis pigmentosa-7, 608133 (3) 3
chr6:42774039
PRPH2, D338G		 C/T Retinitis punctata albescens, 136880 (3) 3
chr6:52022915
PKHD1, R760C		 A/A Polycystic kidney and hepatic disease, 263200 (3) 5
chr6:65358225
EYS, L1419S		 G/A Retinitis pigmentosa-25, 602772 (3) 4
chr6:65679184
EYS, L852P		 G/A Retinitis pigmentosa-25, 602772 (3) 4
chr6:80285260
LCA5, L24S		 G/A Leber congenital amaurosis 5, 604537 (3) 4
chr6:100975500
SIM1, P352T		 T/G Obesity, severe, 601665 (3) 3
chr6:117057526
RSPH4A, L589P		 C/C Ciliary dyskinesia, primary, 11, 612649 (3) 4
chr6:152821626
SYNE1, R843C		 A/G 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
chr6:160926162
LPA, T1399P		 G/T [LPA deficiency, congenital] (3) 3
chr6:160926162
LPA, T1399P		 G/T {Coronary artery disease, susceptibility to} (1) 3
chr6:166499260
T, G177D		 T/C {Neural tube defects, susceptibility to}, 182940 (3) 3
chr7:21731977
DNAH11, Q2438*		 T/C 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/T Ciliary dyskinesia, primary, 7, with out without situs inversus, 611884 (3) 5
chr7:34784638
NPSR1, N107I		 T/A {Asthma, susceptibility to, 2}, 608584 (3) 5
chr7:39345850
POU6F2, P199L		 T/C {Wilms tumor susceptibility-5}, 601583 (3) 4
chr7:65063329
GUSB, L649P		 G/G 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
chr7:92573124
SAMD9, R75W		 A/G Tumoral calcinosis, familial, normophosphatemic, 610455 (3) 4
chr7:92893689
CALCR, L447P		 G/A {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) 4
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
chr7:128375960
IRF5, L440P		 C/T {Inflammatory bowel disease 14, susceptibility to}, 612245 (3) 4
chr7:128375960
IRF5, L440P		 C/T {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) 4
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
chr7:142753362
CLCN1, P727L		 T/C Myotonia congenita, dominant, 160800 (3) 4
chr7:142753362
CLCN1, P727L		 T/C Myotonia congenita, recessive, 255700 (3) 4
chr7:142753362
CLCN1, P727L		 T/C Myotonia levior, recessive (3) 4
chr7:150338250
NOS3, L876P		 C/T {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) 4
chr7:150338250
NOS3, L876P		 C/T {Coronary spasms, susceptibility to} (3) 4
chr7:150338250
NOS3, L876P		 C/T {Hypertension, pregnancy-induced}, 189800 (3) 4
chr7:150338250
NOS3, L876P		 C/T {Hypertension, susceptibility to}, 145500 (3) 4
chr7:150338250
NOS3, L876P		 C/T {Ischemic stroke, susceptibility to}, 601367 (3) 4
chr7:150338250
NOS3, L876P		 C/T {Placental abruption} (3) 4
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/C Alopecia universalis, 203655 (3) 3
chr8:22040890
HR, G337D		 T/C Atrichia with papular lesions, 209500 (3) 3
chr8:22040890
HR, G337D		 T/C Hypotrichosis, Marie Unna type, 146550 (3) 3
chr8:55701948
RP1, N985Y		 T/T Retinitis pigmentosa-1, 180100 (3) 3
chr8:55701948
RP1, N985Y		 T/T {Hypertriglyceridemia, susceptibility to}, 145750 (3) 3
chr8:55705093
RP1, C2033Y		 A/A Retinitis pigmentosa-1, 180100 (3) 4
chr8:55705093
RP1, C2033Y		 A/A {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/T Achromatopsia-3, 262300 (3) 3
chr8:87735367
CNGB3, T298P		 G/T 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
chr8:118253964
SLC30A8, R325W		 T/C {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) 4
chr8:134053240
TG, R1999W		 T/T Goiter, adolescent multinodular (1) 4
chr8:134053240
TG, R1999W		 T/T Goiter, nonendemic, simple (3) 4
chr8:134053240
TG, R1999W		 T/T Hypothyroidism, hereditary congenital (3) 4
chr8:134053240
TG, R1999W		 T/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/C Mental retardation, autosomal dominant 2 (3) 3
chr9:32540896
TOPORS, S25W		 C/G Retinitis pigmentosa-31, 609923 (3) 4
chr9:110681646
IKBKAP, P1158L		 A/G Dysautonomia, familial, 223900 (3) 4
chr9:122245802
CDK5RAP2, G1022E		 T/C Microcephaly, primary autosomal recessive, 3, 604804 (3) 4
chr9:132750413
ABL1, S972L		 T/C Leukemia, Philadelphia chromosome-positive, resistant to imatinib (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
chr10:16959003
CUBN, E3002G		 C/T Megaloblastic anemia-1, Finnish type, 261100 (3) 4
chr10:16983377
CUBN, S2717W		 C/C Megaloblastic anemia-1, Finnish type, 261100 (3) 4
chr10:17007407
CUBN, C2162Y		 T/T Megaloblastic anemia-1, Finnish type, 261100 (3) 4
chr10:17187527
CUBN, P389T		 T/G Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:17196157
CUBN, F253S		 G/G Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:55625450
PCDH15, D398A		 G/T Deafness, autosomal recessive 23, 609533 (3) 3
chr10:55625450
PCDH15, D398A		 G/T Usher syndrome, type 1D/F digenic, 601067 (3) 3
chr10:55625450
PCDH15, D398A		 G/T Usher syndrome, type 1F, 602083 (3) 3
chr10:71002210
NEUROG3, F199S		 G/G Diarrhea 4, malabsorptive, congenital, 610370 (3) 3
chr10:72752569
SLC29A3, R18G		 G/G Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) 4
chr10:75343107
PLAU, L124P		 C/C {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) 4
chr10:88625759
BMPR1A, P2T		 A/A Juvenile polyposis syndrome, infantile form, 174900 (3) 3
chr10:88625759
BMPR1A, P2T		 A/A Polyposis syndrome, hereditary mixed, 2, 610069 (3) 3
chr10:88625759
BMPR1A, P2T		 A/A Polyposis, juvenile intestinal, 174900 (3) 3
chr10:90997319
LIPA, G23R		 T/C Cholesteryl ester storage disease (3) 4
chr10:90997319
LIPA, G23R		 T/C Wolman disease (3) 4
chr10:96029587
PLCE1, R1575P		 C/G Nephrotic syndrome, type 3, 610725 (3) 3
chr10:96692037
CYP2C9, R144C		 T/C Tolbutamide poor metabolizer (3) 5
chr10:96692037
CYP2C9, R144C		 T/C Warfarin sensitivity, 122700 (3) 5
chr10:99494620
ZFYVE27, G138V		 T/G Spastic paraplegia 33, 610244 (3) 5
chr10:100173560
HPS1, P491R		 C/G Hermansky-Pudlak syndrome 1, 203300 (3) 3
chr10:124319700
DMBT1, P42T		 A/A Glioblastoma multiforme, somatic, 137800 (3) 3
chr10:124319700
DMBT1, P42T		 A/A Medulloblastoma, 155255 (2) 3
chr10:124320417
DMBT1, S54L		 T/T Glioblastoma multiforme, somatic, 137800 (3) 4
chr10:124320417
DMBT1, S54L		 T/T Medulloblastoma, 155255 (2) 4
chr11:20579618
SLC6A5, F124S		 C/T Hyperekplexia, 149400 (3) 3
chr11:46360513
MDK, R57L		 T/G Mesomelic dysplasia, Kantaputra type (2) 4
chr11:47388304
SLC39A13, E28G		 G/A Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3) 4
chr11:62214417
BSCL2, *399R		 T/A Lipodystrophy, congenital generalized, type 2, 269700 (3) 10
chr11:62214417
BSCL2, *399R		 T/A Neuropathy, distal hereditary motor, type V, 600794 (3) 10
chr11:62214417
BSCL2, *399R		 T/A Silver spastic paraplegia syndrome, 270685 (3) 10
chr11:65165513
SIPA1, S182F		 T/C Metastasis efficiency, modification of (1) 3
chr11:67565844
TCIRG1, R56W		 T/C Osteopetrosis, recessive 1, 259700 (3) 4
chr11:68435538
IGHMBP2, L201S		 C/T 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/A [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) 4
chr11:73390200
UCP3, R282C		 A/G {Obesity, severe, and type II diabetes}, 601665 (3) 5
chr11:76580858
MYO7A, R1347C		 T/C Deafness, autosomal dominant 11, neurosensory, 601317 (3) 5
chr11:76580858
MYO7A, R1347C		 T/C Deafness, autosomal recessive 2, neurosensory, 600060 (3) 5
chr11:76580858
MYO7A, R1347C		 T/C Usher syndrome, type 1B, 276900 (3) 5
chr11:88551344
TYR, S192Y		 A/A Albinism, oculocutaneous, type IA, 203100 (3) 3
chr11:88551344
TYR, S192Y		 A/A Albinism, oculocutaneous, type IB, 606952 (3) 3
chr11:88551344
TYR, S192Y		 A/A Waardenburg syndrome/albinism, digenic, 103470 (3) 3
chr11:88551344
TYR, S192Y		 A/A [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
chr11:118034227
TREH, *578S		 G/G Trehalase deficiency, 612119 (1) 10
chr11:119015854
PVRL1, V361G		 C/A Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3) 5
chr11:119015854
PVRL1, V361G		 C/A Ectodermal dysplasia, Margarita Island type, 225060 (3) 5
chr11:119015854
PVRL1, V361G		 C/A Orofacial cleft 7 (3) 5
chr11:119015854
PVRL1, V361G		 C/A Zlotogora-Ogur syndrome, 225000 (3) 5
chr11:125274564
HYLS1, C31R		 C/T Hydrolethalus syndrome, 236680 (3) 5
chr12:861173
WNK1, T1056P		 C/C Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) 3
chr12:861173
WNK1, T1056P		 C/C Pseudohypoaldosteronism, type IIC, 145260 (3) 3
chr12:32913201
PKP2, L366P		 G/A Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3) 4
chr12:50968192
KRT81, L248R		 C/C Monilethrix, 158000 (3) 4
chr12:51114085
KRT75, R91G		 C/T {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) 4
chr12:51330534
KRT2, G219D		 T/C Ichthyosis bullosa of Siemens, 146800 (3) 3
chr12:51472355
KRT3, R375G		 C/G Meesmann corneal dystrophy, 122100 (3) 4
chr12:54781139
ERBB3, R1077W		 T/C Lethal congenital contractural syndrome 2, 607598 (3) 4
chr12:55711185
MYO1A, S797F		 A/G Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3) 3
chr12:97516507
SLC25A3, L179R		 G/T Micochondrial phosphate carrier deficiency, 610773 (3) 4
chr13:38162690
FREM2, F1070S		 C/T Fraser syndrome, 219000 (3) 3
chr13:76464091
CLN5, R2C		 T/C Ceroid-lipofuscinosis, neuronal-5, variant late infantile, 256731 (3) 5
chr13:102325850
ERCC5, G1053R		 C/G Cerebrooculofacioskeletal syndrome 3 (3) 4
chr13:102325850
ERCC5, G1053R		 C/G 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/T 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/C L-2-hydroxyglutaric aciduria, 236792 (3) 4
chr14:74583581
MLH3, P844L		 A/A Colon cancer, hereditary nonpolypopsis, type 7 (3) 4
chr14:74583581
MLH3, P844L		 A/A Colorectal cancer, somatic, 114500 (3) 4
chr14:93917015
SERPINA1, E288V		 A/T Emphysema (3) 3
chr14:93917015
SERPINA1, E288V		 A/T Emphysema-cirrhosis (3) 3
chr14:93917015
SERPINA1, E288V		 A/T Hemorrhagic diathesis due to 'antithrombin' Pittsburgh (3) 3
chr14:93917015
SERPINA1, E288V		 A/T {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) 3
chr14:95226940
TCL1B, G93R		 A/G Leukemia/lymphoma, T-cell (2) 4
chr15:23156725
UBE3A, Q531*		 A/G Angelman syndrome, 105830 (3) 10
chr15:40808275
CDAN1, R891C		 A/G Anemia, congenital dyserythropoietic, type I, 224120 (3) 5
chr15:40958085
TTBK2, L8P		 G/A Spinocerebellar ataxia-11, 604432 (3) 4
chr15:42731049
SPG11, F463S		 G/A Spastic paraplegia-11, 604360 (3) 3
chr15:43179367
DUOX2, S1067L		 A/G Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3) 4
chr15:43191358
DUOX2, P138L		 A/G Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (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/T {Dyslexia, susceptibility to, 1}, 127700 (3) 4
chr15:87199609
ACAN, S930I		 T/G Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) 4
chr15:87604954
FANCI, P55L		 T/C Fanconi anemia, complementation group I, 608053 (3) 4
chr16:46761579
ABCC11, N1277Y		 A/T [Earwax, wet/dry], 117800 (3) 3
chr16:55493820
SLC12A3, R919C		 T/C Gitelman syndrome, 263800 (3) 5
chr16:74070435
CHST6, R265C		 A/G Macular corneal dystrophy, 217800 (3) 5
chr16:76978346
WWOX, V202G		 G/T Esophageal squamous cell carcinoma, 133239 (3) 5
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
chr16:87029709
ZNF469, D2749V		 T/A Brittle cornea syndrome, 229200 (3) 5
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/C Adrenal cortical carcinoma, 202300 (3) 3
chr17:7520197
TP53, P72R		 C/C Breast cancer, 114480 (3) 3
chr17:7520197
TP53, P72R		 C/C Choroid plexus papilloma, 260500 (3) 3
chr17:7520197
TP53, P72R		 C/C Colorectal cancer, 114500 (3) 3
chr17:7520197
TP53, P72R		 C/C Hepatocellular carcinoma, 114550 (3) 3
chr17:7520197
TP53, P72R		 C/C Li-Fraumeni syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/C Li-Fraumeni-like syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/C Nasopharyngeal carcinoma, 161550 (3) 3
chr17:7520197
TP53, P72R		 C/C Osteosarcoma, 259500 (3) 3
chr17:7520197
TP53, P72R		 C/C Pancreatic cancer, 260350 (3) 3
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
chr17:36276907
KRT12, R20W		 A/G Meesmann corneal dystrophy, 122100 (3) 4
chr17:37949759
NAGLU, R737G		 G/C Sanfilippo syndrome, type B, 252920 (3) 4
chr17:38497961
BRCA1, E1038G		 C/C {Breast-ovarian cancer, familial, 1}, 604370 (3) 4
chr17:38498462
BRCA1, P824L		 A/A {Breast-ovarian cancer, familial, 1}, 604370 (3) 4
chr17:38499912
BRCA1, R341G		 C/T {Breast-ovarian cancer, familial, 1}, 604370 (3) 4
chr17:41416612
MAPT, P202L		 T/T Dementia, frontotemporal, with or without parkinsonism, 600274 (3) 4
chr17:41416612
MAPT, P202L		 T/T Parkinson disease, 168600 (3) 4
chr17:41416612
MAPT, P202L		 T/T Pick disease, 172700 (3) 4
chr17:41416612
MAPT, P202L		 T/T Supranuclear palsy, progressive atypical, 260540 (3) 4
chr17:41416612
MAPT, P202L		 T/T Supranuclear palsy, progressive, 601104 (3) 4
chr17:41416612
MAPT, P202L		 T/T Tauopathy and respiratory failure (3) 4
chr17:41417115
MAPT, R370W		 T/T Dementia, frontotemporal, with or without parkinsonism, 600274 (3) 4
chr17:41417115
MAPT, R370W		 T/T Parkinson disease, 168600 (3) 4
chr17:41417115
MAPT, R370W		 T/T Pick disease, 172700 (3) 4
chr17:41417115
MAPT, R370W		 T/T Supranuclear palsy, progressive atypical, 260540 (3) 4
chr17:41417115
MAPT, R370W		 T/T Supranuclear palsy, progressive, 601104 (3) 4
chr17:41417115
MAPT, R370W		 T/T Tauopathy and respiratory failure (3) 4
chr17:42715729
ITGB3, L59P		 C/T Glanzmann thrombasthenia, type B (3) 4
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
chr18:27173882
DSG1, Y528S		 C/A Keratosis palmoplantaris striata I, 148700 (3) 3
chr18:48686600
DCC, R201G		 G/C Colorectal cancer (3) 4
chr19:1339538
NDUFS7, P23L		 T/T Leigh syndrome, 256000 (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
chr19:10333597
TYK2, V603E		 T/A Protein-tyrosine kinase 2 deficiency, 611521 (3) 3
chr19:18041413
IL12RB1, G378R		 G/G {Mycobacterial and salmonella infections, susceptibility to}, 209950 (3) 4
chr19:40216664
SCN1B, L210P		 C/T Generalized epilepsy with febrile seizures plus, 604233 (3) 4
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
chr19:46595658
BCKDHA, G29E		 A/G Maple syrup urine disease, type Ia, 248600 (3) 4
chr19:60019772
KIR3DL1, S2L		 T/C {AIDS, delayed/rapid progression to}, 609423 (3) 4
chr19:60024951
KIR3DL1, G259R		 C/G {AIDS, delayed/rapid progression to}, 609423 (3) 4
chr19:60025087
KIR3DL1, W304L		 T/G {AIDS, delayed/rapid progression to}, 609423 (3) 4
chr20:10334013
MKKS, G532V		 A/C Bardet-Biedl syndrome 6, 209900 (3) 5
chr20:10334013
MKKS, G532V		 A/C McKusick-Kaufman syndrome, 236700 (3) 5
chr20:10334059
MKKS, R517C		 A/G Bardet-Biedl syndrome 6, 209900 (3) 5
chr20:10334059
MKKS, R517C		 A/G McKusick-Kaufman syndrome, 236700 (3) 5
chr22:25190556
HPS4, G342V		 A/C Hermansky-Pudlak syndrome 4, 203300 (3) 5
chr22:25192212
HPS4, E224G		 C/C Hermansky-Pudlak syndrome 4, 203300 (3) 4
chr22:29341610
TCN2, R259P		 C/C Transcobalamin II deficiency (3) 3
chr22:29343419
TCN2, S348F		 T/C Transcobalamin II deficiency (3) 3
chr22:34917650
APOL4, Y155C		 C/C {Schizophrenia}, 181500 (1) 4
chr22:36460418
TRIOBP, W1377R		 C/T Deafness, autosomal recessive 28, 609823 (3) 4
chr22:49309648
SCO2, R20P		 G/C Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3) 3