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
RS2140669923 SLC12A6 Health Risk Likely pathogenic —
RS2140670011 SLC12A6 Health Risk Pathogenic —
RS2140670185 SLC12A6 Health Risk Pathogenic —
RS2140670271 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2140671935 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS2140679963 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2140680984 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140681185 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Heart
RS2140681497 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140681546 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, nonsyndromic
RS2140681839 SMAD6 Health Risk Pathogenic Polydactyly, Radioulnar synostosis
RS2140682156 SLC12A6 Health Risk Pathogenic Charcot-Marie-Tooth disease, axonal
RS2140682314 SLC12A6 Health Risk Pathogenic —
RS2140682397 SLC12A6 Health Risk Pathogenic —
RS2140682882 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, Melorheostosis
RS2140692680 AFG2B Health Risk Likely pathogenic See cases, See cases
RS2140693094 SLC12A6 Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2140693876 SLC12A6 Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, Charcot-Marie-Tooth disease
RS2140696722 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS2140696739 GABRB3 Health Risk Likely pathogenic —
RS2140701678 SLC24A5 Health Risk Pathogenic —
RS2140704811 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2140706418 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2140706563 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140707466 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140711733 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2140711798 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140711857 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2140711872 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140712808 MAGEL2 Health Risk Pathogenic —
RS2140713056 MAGEL2 Health Risk Pathogenic Prader-Willi syndrome, Prader-Willi syndrome
RS2140713406 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140714112 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140714188 MAGEL2 Health Risk Pathogenic —
RS2140714298 MAGEL2 Health Risk Pathogenic Prader-Willi syndrome, Prader-Willi syndrome
RS2140714531 MAGEL2 Health Risk Pathogenic —
RS2140714880 MAGEL2 Health Risk Pathogenic —
RS2140714912 MAGEL2 Health Risk Pathogenic —
RS2140715275 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140717041 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140717155 MAGEL2 Health Risk Likely pathogenic —
RS2140717169 MAGEL2 Health Risk Pathogenic/Likely pathogenic —
RS2140717180 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140717963 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140718078 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS2140718089 MAGEL2 Health Risk Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS2140718246 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2140718451 MAGEL2 Health Risk Likely pathogenic —
RS2140719261 MAGEL2 Health Risk Likely pathogenic Developmental disorder, Schaaf-Yang syndrome
RS2140721648 AFG2B Health Risk Likely pathogenic See cases, See cases
RS2140724562 SLC12A6 Health Risk Pathogenic —
RS2140724680 SLC12A6 Health Risk Pathogenic —
RS2140726249 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2140726371 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract
RS2140727029 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, ZMYM2-related disorder
RS2140733940 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2140734026 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140734972 SLC12A6 Health Risk Likely pathogenic —
RS2140737430 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2140737436 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2140737496 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2140737589 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2140737885 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2140740334 SLC24A5 Health Risk Likely pathogenic —
RS2140749622 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS2140754731 SLC24A5 Health Risk Pathogenic —
RS2140756412 SLC12A6 Health Risk Likely pathogenic —
RS2140757755 TTBK2 Health Risk Likely pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS2140763302 KIAA0586 Health Risk Likely pathogenic KIAA0586-related disorder, KIAA0586-related disorder
RS2140768125 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2140770415 TTBK2 Health Risk Pathogenic —
RS2140777563 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2140777637 SLC12A6 Health Risk Pathogenic —
RS2140778033 SLC12A6 Health Risk Pathogenic —
RS2140787387 FBN1 Health Risk Conflicting classifications of pathogenicity Isolated thoracic aortic aneurysm, Marfan syndrome
RS2140787712 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Marfan syndrome
RS2140787769 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS2140787904 FBN1 Health Risk Pathogenic —
RS2140799679 DPYS Health Risk Pathogenic —
RS2140807775 ALG11;LOC130009841 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS2140824287 OCA2 Health Risk Pathogenic —
RS2140828534 ADSS1 Health Risk Pathogenic —
RS2140833479 ADSS1 Health Risk Likely pathogenic —
RS2140840645 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS2140844892 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140845247 GPR68 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2140850308 ZMYM2 Health Risk Likely pathogenic —
RS2140851633 ZMYM2 Health Risk Pathogenic —
RS2140853464 MADD Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
RS2140861869 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2140861877 AP4E1 Health Risk Pathogenic Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51
RS2140862092 AP4E1 Health Risk Likely pathogenic —
RS2140867780 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS2140873364 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS2140873534 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140875089 NUSAP1 Health Risk Likely pathogenic Microcephaly, seizures
RS2140875258 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140875758 CEP152 Health Risk Pathogenic —
RS2140878481 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2140878554 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
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