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
RS2474163378 COL4A4 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2474168094 WFS1 Health Risk Pathogenic —
RS2474171093 WFS1 Health Risk Pathogenic —
RS2474171277 WFS1 Health Risk Pathogenic —
RS2474173555 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2474174484 WFS1 Health Risk Pathogenic —
RS2474176082 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2474179980 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2474180246 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2474180806 NRROS Health Risk Likely pathogenic Seizures, early-onset
RS2474181432 WFS1 Health Risk Likely pathogenic —
RS2474181603 WFS1 Health Risk Pathogenic —
RS2474190262 CACNA1D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2474190601 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474190790 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474191062 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474191369 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474191525 RUBCN Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
RS2474191991 WFS1 Health Risk Likely pathogenic —
RS2474192025 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192093 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192152 WFS1 Health Risk Pathogenic —
RS2474192155 WFS1 Health Risk Pathogenic —
RS2474192211 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192449 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2474192655 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192685 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192840 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474192907 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193071 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193195 WFS1 Health Risk Likely pathogenic —
RS2474193269 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193334 WFS1 Health Risk Pathogenic —
RS2474193391 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474193568 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193836 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193910 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474193970 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474194001 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2474194160 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474194177 WFS1 Health Risk Likely pathogenic WFS1-related disorder, WFS1-related disorder
RS2474194199 WFS1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6
RS2474194498 WFS1 Health Risk Pathogenic —
RS2474195328 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2474195528 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS2474195676 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6
RS2474195730 WFS1 Health Risk Likely pathogenic WFS1-related disorder, Monogenic hearing loss
RS2474195882 WFS1 Health Risk Pathogenic —
RS2474195922 WFS1 Health Risk Pathogenic —
RS2474195933 WFS1 Health Risk Pathogenic —
RS2474196259 WFS1 Health Risk Pathogenic —
RS2474197080 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS2474197682 WFS1 Health Risk Pathogenic —
RS2474197779 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-related disorder, WFS1-related disorder
RS2474198676 ATP13A3 Health Risk Pathogenic —
RS2474198889 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474204665 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2474215752 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS2474218124 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474219766 NSD2 Health Risk Pathogenic NSD2-related disorder, NSD2-related disorder
RS2474220383 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474221510 COL4A4 Health Risk Likely pathogenic Hematuria, benign familial
RS2474222643 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474224530 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474224740 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474225085 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474225919 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2474235576 CLCN2 Health Risk Likely pathogenic CLCN2-related disorder, CLCN2-related disorder
RS2474239446 CLCN2 Health Risk Pathogenic —
RS2474240689 CLCN2 Health Risk Likely pathogenic CLCN2-related disorder, CLCN2-related disorder
RS2474245240 CLCN2 Health Risk Pathogenic —
RS2474246529 CLCN2 Health Risk Pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS2474252483 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474259823 CLCN2 Health Risk Likely pathogenic —
RS2474261231 THRB Health Risk Pathogenic Macular dystrophy, Macular dystrophy
RS2474262070 TERC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2474262453 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS2474263656 TBX1 Health Risk Pathogenic DiGeorge syndrome, DiGeorge syndrome
RS2474268824 PDE6B Health Risk Likely pathogenic —
RS2474268882 PDE6B Health Risk Likely pathogenic —
RS2474277095 CLCN2 Health Risk Likely pathogenic CLCN2-related disorder, CLCN2-related disorder
RS2474284589 RNF168 Health Risk Pathogenic —
RS2474303339 MYLK Health Risk Conflicting classifications of pathogenicity Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS2474306346 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474308188 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474331632 NSD2 Health Risk Likely pathogenic 4p partial monosomy syndrome, 4p partial monosomy syndrome
RS2474340489 NSD2 Health Risk Likely pathogenic NSD2-related disorder, NSD2-related disorder
RS2474340960 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474342362 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rauch-Steindl syndrome
RS2474349217 THPO Health Risk Pathogenic Amegakaryocytic thrombocytopenia, congenital
RS2474373415 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474373707 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474375068 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474375517 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474376997 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474380 NFIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2474380998 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474384588 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474386484 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474391553 RAB28 Health Risk Pathogenic —
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