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
RS2468531809 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468532181 SCN1A Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2468532253 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468533185 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2468533193 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468533857 NCKAP1 Health Risk Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS2468534298 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468535035 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468536125 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS2468537034 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468538145 NCKAP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468538445 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468539882 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468542809 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468545550 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468547967 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468547973 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468548073 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468548358 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468548402 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468548438 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468548491 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468548572 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468548836 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468549024 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468549987 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468550107 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468551534 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468553604 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468553759 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468554373 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468554627 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468556289 WDPCP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468557012 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468560510 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468564655 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468565242 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468568066 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468572216 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468576682 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468577841 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468577902 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468579514 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468580364 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468581293 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2468581605 CERKL Health Risk Pathogenic —
RS2468581727 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468581844 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468582394 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468582909 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468583114 CERKL Health Risk Pathogenic —
RS2468583750 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468583768 CERKL Health Risk Pathogenic —
RS2468584051 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468584949 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468585640 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468585891 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468586470 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468587162 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468588268 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468588490 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468595822 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468596371 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468599238 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468602856 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468604532 NCKAP1 Health Risk Pathogenic Neurodevelopmental abnormality, Autistic behavior
RS2468604863 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468608636 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468610103 LNPK Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
RS2468610661 NEUROD1 Health Risk Likely pathogenic NEUROD1-related disorder, NEUROD1-related disorder
RS2468610727 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS2468613127 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468613419 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2468615003 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468616125 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468618014 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS2468618218 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS2468619234 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468620294 SUCLG1 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS2468622062 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468622241 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468622411 TTN Health Risk Likely pathogenic Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS2468623011 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468626300 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS2468630662 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS2468631530 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468633800 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468635041 PGAP1 Health Risk Likely pathogenic —
RS2468637227 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS2468637677 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468639966 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468642899 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468645096 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468647366 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS2468647881 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468648038 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468648655 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468651285 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468651526 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468651662 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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