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
RS2114496205 TNFAIP3 Health Risk Pathogenic —
RS2114496422 TNFAIP3 Health Risk Likely pathogenic Autoinflammatory syndrome, familial
RS2114496684 TNFAIP3 Health Risk Pathogenic —
RS2114496900 TNFAIP3 Health Risk Pathogenic —
RS2114497046 TNFAIP3 Health Risk Pathogenic —
RS2114499502 PRDM13 Health Risk Pathogenic Cerebellar dysfunction, impaired intellectual development
RS2114499761 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2114499988 PRDM13 Health Risk Pathogenic Pontocerebellar hypoplasia, IIA 17
RS2114499999 TNFAIP3 Health Risk Pathogenic —
RS2114500026 PRDM13 Health Risk Pathogenic Pontocerebellar hypoplasia, IIA 17
RS2114500035 PRDM13 Health Risk Pathogenic Pontocerebellar hypoplasia, IIA 17
RS2114500822 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2114501072 TNFAIP3 Health Risk Pathogenic —
RS2114501078 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114501230 LAMA2 Health Risk Pathogenic —
RS2114501370 TNFAIP3 Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, familial
RS2114501598 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114502128 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2114502447 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114502893 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114502928 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114503272 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2114504458 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS2114504766 TNFAIP3 Health Risk Pathogenic —
RS2114505190 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2114506070 TNFAIP3 Health Risk Pathogenic —
RS2114506723 TNFAIP3 Health Risk Pathogenic —
RS2114507395 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114519176 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114532848 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114532949 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114532990 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Abnormality of the musculature
RS2114533123 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114537397 TRDN Health Risk Likely pathogenic —
RS2114537918 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2114539596 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS2114540946 SIM1 Health Risk Pathogenic Obesity due to SIM1 deficiency, Obesity due to SIM1 deficiency
RS2114544574 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2114545947 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114546081 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114547911 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114549176 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS2114549524 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS2114549604 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114551021 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114551140 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2114568240 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114568250 LAMA2 Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2114568387 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114593143 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS2114593280 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114593373 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114593440 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114593621 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114593671 LAMA2 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2114606394 OSTM1 Health Risk Pathogenic —
RS2114606433 OSTM1 Health Risk Pathogenic —
RS2114611238 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2114611483 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2114611687 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2114619908 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114620061 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114620232 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114627220 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114627508 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114628933 RTN4IP1 Health Risk Likely pathogenic —
RS2114643507 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114653975 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS2114654019 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2114664519 HIVEP2 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2114670709 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114671870 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114674305 NUS1 Health Risk Pathogenic —
RS2114674308 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2114674385 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2114674415 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS2114674584 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114674819 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114677062 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS2114680188 RTN4IP1 Health Risk Likely pathogenic —
RS2114681987 RTN4IP1 Health Risk Pathogenic —
RS2114687510 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS2114687537 NUS1 Health Risk Likely pathogenic —
RS2114691078 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS2114693876 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2114693896 NUS1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, type IAA
RS2114693926 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2114696019 NUS1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, type IAA
RS2114697790 LAMA2 Health Risk Likely pathogenic See cases, Merosin deficient congenital muscular dystrophy
RS2114699560 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2114700273 ENPP1 Health Risk Likely pathogenic —
RS2114702042 ENPP1 Health Risk Likely pathogenic Arterial calcification, generalized
RS2114702198 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114706946 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114710332 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114715466 ENPP1 Health Risk Likely pathogenic —
RS2114715547 ENPP1 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2114726975 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114727013 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114728448 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
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