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
RS2468360387 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468360413 ITGA6 Health Risk Pathogenic —
RS2468360599 ITGA6 Health Risk Likely pathogenic —
RS2468360795 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468361369 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468363453 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468363505 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468363579 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468363965 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468364026 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS2468364142 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468364376 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468365185 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468365428 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468365970 PROC Health Risk Likely pathogenic PROC-related disorder, PROC-related disorder
RS2468366132 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468367066 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468367271 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468367496 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468367623 SCN1A Health Risk Likely pathogenic —
RS2468367688 GAD1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS2468369388 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468369853 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468370308 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468371283 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468373773 ITGA6 Health Risk Pathogenic —
RS2468374137 LOC129935182;TTN;TTN-AS1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468375686 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468376006 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468376391 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468376955 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468377108 SCN1A Health Risk Pathogenic Seizure, Seizure
RS2468377257 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468377395 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468377531 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468377562 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468377732 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468378608 ITGA6 Health Risk Pathogenic —
RS2468378787 ITGA6 Health Risk Likely pathogenic —
RS2468379908 PROC Health Risk Likely pathogenic Hereditary thrombophilia due to congenital protein C deficiency, Hereditary thrombophilia due to congenital protein C deficiency
RS2468379949 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468380518 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468381307 ITGA6 Health Risk Pathogenic —
RS2468381753 LOC129935183;TTN;TTN-AS1 Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468381989 ITGA6 Health Risk Pathogenic —
RS2468382669 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468382923 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468384784 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468386814 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468387098 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468388434 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468389272 ITGA6 Health Risk Pathogenic —
RS2468389595 ITGA6 Health Risk Pathogenic —
RS2468389926 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468390355 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468392193 TTN Health Risk Likely pathogenic —
RS2468393292 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468393311 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468393340 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468393445 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468393717 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468393912 SCN1A Health Risk Likely pathogenic —
RS2468394060 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468394208 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468394423 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468394650 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468394870 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2468394894 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy
RS2468395152 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468402452 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468403836 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468405108 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468405341 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS2468405648 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468407057 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468408072 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468408553 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468408570 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468408602 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2468408721 ITGAV Health Risk Pathogenic/Likely pathogenic ITGAV deficiency, IMMUNE DYSREGULATION
RS2468414271 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468417997 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468418251 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468418880 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468420275 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468425141 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468425787 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468426201 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468426738 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468427645 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468428826 CDCA7 Health Risk Likely pathogenic —
RS2468429736 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468432613 CERKL Health Risk Pathogenic —
RS2468432758 CERKL Health Risk Pathogenic —
RS2468433099 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468433273 CERKL Health Risk Pathogenic —
RS2468433533 LOC102724058;SCN1A Health Risk Likely pathogenic SCN1A Seizure Disorders, SCN1A Seizure Disorders
RS2468433549 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468433633 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468433703 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
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