SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS150351852 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS150352833 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS150352976 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS150354113 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS150355046 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS150355232 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS150355335 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS150355356 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS150355624 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150356488 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS150356636 EVI2B Health Risk Conflicting classifications of pathogenicity —
RS150357258 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150358276 PCDH12 Health Risk Conflicting classifications of pathogenicity Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases
RS150358307 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS150359172 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, DNMT1-related disorder
RS150363441 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS150364458 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, GLIS3-related disorder
RS150365980 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors
RS150367317 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS150368249 CAV1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS150368544 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS150368802 ZNF408 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150368988 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Autosomal dominant nonsyndromic hearing loss 6
RS150369301 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS150370217 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150370442 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS150370598 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS150370762 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS150371881 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS150372520 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS150372864 FLAD1 Health Risk Conflicting classifications of pathogenicity Cholangiocarcinoma, Ovarian serous cystadenocarcinoma
RS150372878 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS150373546 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS150373788 IFT43 Health Risk Conflicting classifications of pathogenicity —
RS150373930 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS150374940 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS150375708 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150376179 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS150376433 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS150376474 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS150376603 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS150376715 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150377265 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS150377792 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150378280 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS150378634 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS150378645 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150379164 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS150379789 SLC24A5 Health Risk Conflicting classifications of pathogenicity —
RS150380359 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases
RS150381599 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, PRPH2-related disorder
RS150382307 SIM1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Inborn genetic diseases
RS150382575 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS150382715 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS150383726 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS150384171 CD320 Health Risk Conflicting classifications of pathogenicity; other Methylmalonic acidemia due to transcobalamin receptor defect, CD320-related disorder
RS150385253 SLC44A4 Health Risk Conflicting classifications of pathogenicity —
RS150385329 IKZF1 Health Risk Conflicting classifications of pathogenicity —
RS150385364 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS150385900 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS150387338 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150387982 IFT27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, IFT27-related disorder
RS150388984 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS150389057 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS150390726 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS150391376 GMNN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150391806 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS150391936 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS150393340 VPS13B Health Risk Pathogenic Cohen syndrome, Inborn genetic diseases
RS150393409 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS150393424 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS150393677 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, Hydrocephalus
RS150393722 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS150394215 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS150395094 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS150395163 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS150395210 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS150395515 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VCAN-related disorder
RS150395645 SGCB Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS150396172 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS150397427 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS150397493 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, Focal segmental glomerulosclerosis 6
RS150399981 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150401168 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS150401343 KCND3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Spinocerebellar ataxia type 19/22
RS150401753 USP26 Health Risk Conflicting classifications of pathogenicity —
RS150402866 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS150402972 AARS2 Health Risk Conflicting classifications of pathogenicity —
RS150402974 TUB Health Risk Conflicting classifications of pathogenicity Retinal dystrophy and obesity, TUB-related disorder
RS150403702 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS150404125 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS150404840 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9L-related disorder
RS150405747 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS150407012 TNFRSF4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
RS150407952 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS150408179 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS150408832 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS150409035 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150411351 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Neural tube defects
RS150411706 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
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