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
RS2504151015 NBEA Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2504151276 TRPM1 Health Risk Pathogenic —
RS2504151460 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS2504153232 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2504153506 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS2504153682 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2504164846 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504169004 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504169446 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504172140 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2504172418 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS2504175252 MAX Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2504175858 ACTC1 Health Risk Likely pathogenic Arthrogryposis, Arthrogryposis
RS2504176178 MAX Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2504176263 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2504177349 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS2504180886 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS2504184408 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504185136 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504185145 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504185348 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504185954 ZMYM2 Health Risk Likely pathogenic ZMYM2-related disorder, ZMYM2-related disorder
RS2504189182 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2504191241 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504194332 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504194635 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504194954 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504196890 ZMYM2 Health Risk Pathogenic —
RS2504196928 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504197072 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504197333 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2504197609 ZMYM2 Health Risk Pathogenic —
RS2504199587 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2504200802 MAX Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2504201797 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2504201839 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2504205415 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS2504205459 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2504209855 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504210003 TRPM1 Health Risk Likely pathogenic —
RS2504210475 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504213280 GABRB3 Health Risk Likely pathogenic —
RS2504213487 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS2504213556 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2504215456 TRPM1 Health Risk Pathogenic —
RS2504215863 TTLL5 Health Risk Pathogenic Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS2504221771 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2504230996 TRPM1 Health Risk Likely pathogenic —
RS2504231588 INF2 Health Risk Pathogenic —
RS2504232979 INF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E
RS2504233229 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2504237386 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504238331 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504241662 INF2 Health Risk Likely pathogenic Kidney disorder, Kidney disorder
RS2504243195 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2504243379 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2504245792 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504246108 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504247119 INF2 Health Risk Likely pathogenic INF2-related disorder, INF2-related disorder
RS2504250471 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2504250485 MEIS2 Health Risk Likely pathogenic —
RS2504250511 MEIS2 Health Risk Pathogenic —
RS2504250536 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2504251871 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504252308 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS2504252312 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontoneocerebellar hypoplasia
RS2504252353 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2504262571 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Retinal dystrophy
RS2504262624 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504271197 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504282342 KNL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2504286530 TTLL5 Health Risk Likely pathogenic TTLL5-related disorder, TTLL5-related disorder
RS2504297792 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS2504306619 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504323828 TTLL5 Health Risk Pathogenic —
RS2504329220 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2504330272 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2504336140 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504336964 GCH1 Health Risk Likely pathogenic —
RS2504342839 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2504343509 GCH1 Health Risk Likely pathogenic —
RS2504343638 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2504344357 MDGA2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2504387570 TECPR2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2504390380 GCH1 Health Risk Pathogenic —
RS2504404306 MAX Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2504405092 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504406488 RAD51 Health Risk Likely pathogenic RAD51-related disorder, RAD51-related disorder
RS2504407945 MAX Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2504410874 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504410935 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504411130 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504417338 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504417581 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504418023 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504418131 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504423596 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504423776 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504423788 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS2504424733 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
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