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
RS2468298840 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468301569 TTN;TTN-AS1 Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468301810 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468304792 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468305505 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468306632 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468308520 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468309520 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS2468309929 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS2468311018 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468311419 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468314046 ITGA6 Health Risk Pathogenic —
RS2468314090 ITGA6 Health Risk Pathogenic —
RS2468316009 MAP3K20 Health Risk Pathogenic —
RS2468316872 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468316884 ITGA6 Health Risk Pathogenic —
RS2468317227 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468317497 ITGA6 Health Risk Pathogenic —
RS2468317877 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468317889 CERKL Health Risk Pathogenic —
RS2468318751 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468319890 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2468320263 ITGA6 Health Risk Likely pathogenic —
RS2468321548 TTN Health Risk Likely pathogenic Cardiovascular phenotype, TTN-related disorder
RS2468323213 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468323709 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468324092 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2468324848 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468326108 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468326641 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468327594 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468328310 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468329175 SCN1A Health Risk Likely pathogenic Seizure, Seizure
RS2468329214 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468329771 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468329981 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468330581 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468330690 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468331033 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468331034 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468331199 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468331313 SCN1A Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2468331896 SCN1A Health Risk Likely pathogenic —
RS2468333440 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468333594 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468333625 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468333652 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468333726 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468333910 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468334031 SCN1A Health Risk Pathogenic —
RS2468334088 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS2468334213 CERKL Health Risk Likely pathogenic —
RS2468334417 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468335422 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468335556 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468336207 SCN1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468336343 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS2468336455 CERKL Health Risk Pathogenic —
RS2468336491 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468336585 CERKL Health Risk Pathogenic —
RS2468336617 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468336729 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468336985 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468336988 ITGA6 Health Risk Likely pathogenic —
RS2468337184 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468337332 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468337352 SCN1A Health Risk Pathogenic —
RS2468338472 GAD1 Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS2468338654 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468338828 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468339046 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468339225 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468339380 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468339798 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468340110 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS2468340557 TTN Health Risk Pathogenic —
RS2468340621 SCN1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2468340810 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468341203 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468341208 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468341232 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS2468341751 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468341813 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468343120 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468346595 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468346953 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2468348105 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2468354364 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468354552 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 26
RS2468354584 CERKL Health Risk Pathogenic —
RS2468354691 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468354845 CERKL Health Risk Pathogenic —
RS2468355094 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468356295 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468357258 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468357555 SCN1A Health Risk Pathogenic —
RS2468357742 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468358708 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468358829 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468360052 ITGA6 Health Risk Pathogenic —
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