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
RS1553788026 OPA1 Health Risk Pathogenic —
RS1553788117 OPA1 Health Risk Likely pathogenic —
RS1553788596 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1553788733 COL6A6 Health Risk Likely pathogenic —
RS1553789166 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS1553789264 ZBTB20 Health Risk Likely pathogenic Inborn genetic diseases, Primrose syndrome
RS1553789275 ZBTB20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553794304 CEP19 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1553794464 ZBTB20 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553795301 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1553797598 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1553798675 FGF12 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 47
RS1553800956 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553801591 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1553801881 STAG1 Health Risk Pathogenic —
RS1553802038 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1553803235 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1553803540 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553804100 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553804209 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553804220 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553804640 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553805740 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553805885 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1553807905 EIF2B5 Health Risk Pathogenic —
RS1553808038 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1553808267 TBL1XR1 Health Risk Likely pathogenic —
RS1553808295 TBL1XR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553808296 MYLK Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553808301 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS1553809314 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1553809654 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1553809971 TTN Health Risk Pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS1553810149 TBL1XR1 Health Risk Likely pathogenic —
RS1553810244 TBL1XR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553810255 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 41
RS1553810269 TBL1XR1 Health Risk Likely pathogenic TBL1XR1-related disorder, TBL1XR1-related disorder
RS1553810271 TBL1XR1 Health Risk Likely pathogenic TBL1XR1-related disorder, TBL1XR1-related disorder
RS1553810281 TBL1XR1 Health Risk Likely pathogenic —
RS1553810330 PDE6B Health Risk Likely pathogenic —
RS1553811551 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1553811652 DVL3 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1553811863 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553812417 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553812554 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553813646 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS1553815019 EVC2 Health Risk Pathogenic Jeune thoracic dystrophy, Ellis-van Creveld syndrome
RS1553815325 MED12L Health Risk Likely pathogenic —
RS1553815393 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierpont syndrome
RS1553816164 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS1553818428 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553820381 PIK3CA Health Risk Likely pathogenic —
RS1553820399 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, PIK3CA related overgrowth syndrome
RS1553820434 TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
RS1553820461 TREX1 Health Risk Likely pathogenic —
RS1553820518 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS1553821144 PIK3CA Health Risk Pathogenic Inborn genetic diseases, Diffuse pediatric-type high-grade glioma
RS1553823547 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553825266 PIK3CA Health Risk Pathogenic —
RS1553826166 PIK3CA Health Risk Likely pathogenic Endometrial carcinoma, PIK3CA-related disorder
RS1553826184 PIK3CA Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1553827236 CC2D2A Health Risk Pathogenic/Likely pathogenic 7 conditions, Joubert syndrome 9
RS1553827968 ALG3 Health Risk Pathogenic Inborn genetic diseases, ALG3-congenital disorder of glycosylation
RS1553833239 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553836165 EVC2 Health Risk Pathogenic Jeune thoracic dystrophy, Curry-Hall syndrome
RS1553836169 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553837446 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553840705 TP63 Health Risk Pathogenic —
RS1553840713 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553842818 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1553845300 CC2D2A Health Risk Pathogenic COACH syndrome 1, COACH syndrome 1
RS1553845302 CC2D2A Health Risk Pathogenic —
RS1553845515 TP63 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553845569 CC2D2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553845917 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1553846331 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS1553846613 EVC2 Health Risk Pathogenic —
RS1553847587 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1553847993 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1553848441 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1553849789 COL7A1 Health Risk Pathogenic —
RS1553849875 EVC2 Health Risk Likely pathogenic —
RS1553849894 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553849919 DNAJB11 Health Risk Likely pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS1553849920 DNAJB11 Health Risk Pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS1553850100 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS1553850185 DNAJB11 Health Risk Likely pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS1553850609 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1553850677 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553851245 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1553851462 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553851490 GNB4 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS1553851860 CPLX1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 63
RS1553851870 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553852469 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553852691 MASP1 Health Risk Likely pathogenic —
RS1553852989 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553853012 COL7A1 Health Risk Likely pathogenic —
RS1553853022 COL7A1 Health Risk Pathogenic Epidermolysis bullosa pruriginosa, autosomal dominant
RS1553853065 COL7A1 Health Risk Conflicting classifications of pathogenicity —
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