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
RS2468126249 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS2468126385 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468126508 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468126622 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468126666 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468126672 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468126706 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468126735 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468129330 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468129385 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468129580 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468129590 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468129607 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468129644 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468129656 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS2468129774 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468129879 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468130036 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468130177 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468130270 SCN1A Health Risk Likely pathogenic —
RS2468130287 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468130308 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468131337 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468131662 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468131676 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468131781 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468131950 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468132693 SCN1A Health Risk Pathogenic SCN1A Seizure Disorders, SCN1A Seizure Disorders
RS2468132935 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468133156 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468134625 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468135466 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2468135575 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS2468137966 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468138852 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2468138958 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata
RS2468140499 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468140689 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468141450 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468141601 SCN1A Health Risk Likely pathogenic Seizure, Seizure
RS2468142195 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468144479 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2468145475 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468149284 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468149360 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468149427 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468149509 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468149512 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2468149587 SCN2A Health Risk Pathogenic —
RS2468149606 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468149619 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468149925 SCN2A Health Risk Pathogenic —
RS2468150040 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468150101 SCN1A Health Risk Pathogenic —
RS2468150164 SCN2A Health Risk Pathogenic Episodic ataxia, type 9
RS2468150265 SCN2A Health Risk Pathogenic Episodic ataxia, type 9
RS2468150457 SCN1A Health Risk Pathogenic —
RS2468151030 MAP3K20 Health Risk Pathogenic —
RS2468151787 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468152107 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468152727 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468153527 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2468153767 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2468153773 HOXD13 Health Risk Pathogenic —
RS2468153827 TTN Health Risk Likely pathogenic Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468154010 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS2468154288 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468154852 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468155045 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2468156232 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468156389 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468156577 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468156607 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468156828 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468157284 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468157327 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468157518 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468157631 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468157758 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS2468157766 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468157815 SCN2A Health Risk Likely pathogenic unclassified developmental and epileptic encephalopathy, unclassified developmental and epileptic encephalopathy
RS2468158024 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468158032 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468158264 SCN2A Health Risk Likely pathogenic —
RS2468158340 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468158346 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468158869 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468158980 SCN2A Health Risk Likely pathogenic benign sporadic infantile epilepsy, benign sporadic infantile epilepsy
RS2468159089 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS2468159200 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2468159814 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468159922 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468161838 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468164977 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468165346 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468165481 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468165774 ITGA6 Health Risk Pathogenic —
RS2468166430 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468168693 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468169093 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
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