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
RS2105350715 CHRNA1 Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1A
RS2105350984 CHRNA1 Health Risk Pathogenic Myasthenic syndrome, congenital
RS2105361718 LRP2 Health Risk Pathogenic —
RS2105363277 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS2105365149 SCN2A Health Risk Likely pathogenic See cases, See cases
RS2105365318 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105365343 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS2105371643 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2105371772 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2105373027 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS2105373034 SCN2A Health Risk Pathogenic Epilepsy of infancy with migrating focal seizures, Epilepsy of infancy with migrating focal seizures
RS2105373101 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105377192 LRP2 Health Risk Pathogenic —
RS2105378889 HOXD13 Health Risk Pathogenic —
RS2105379203 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS2105384553 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105384629 SCN2A Health Risk Pathogenic West syndrome, West syndrome
RS2105384651 SCN2A Health Risk Likely pathogenic —
RS2105384694 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105384764 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, Developmental and epileptic encephalopathy
RS2105384790 SCN2A Health Risk Pathogenic —
RS2105384791 SCN2A Health Risk Likely pathogenic —
RS2105385669 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105385694 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105385797 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2105385811 SCN2A Health Risk Pathogenic West syndrome, Developmental and epileptic encephalopathy
RS2105385817 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105385886 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS2105385903 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105390143 EDAR Health Risk Pathogenic —
RS2105390253 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS2105394755 LRP2 Health Risk Pathogenic —
RS2105398203 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105398463 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105398592 SCN2A Health Risk Likely pathogenic —
RS2105398613 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105398736 GALNT3 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2105402019 SCN2A Health Risk Pathogenic Benign familial infantile epilepsy, Benign familial infantile epilepsy
RS2105402260 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105402331 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105402552 SCN2A Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Developmental and epileptic encephalopathy
RS2105402593 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105402711 SCN2A Health Risk Pathogenic West syndrome, West syndrome
RS2105402821 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105403389 SCN2A Health Risk Pathogenic West syndrome, Developmental and epileptic encephalopathy
RS2105403397 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS2105403536 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105403544 SCN2A Health Risk Pathogenic West syndrome, West syndrome
RS2105403619 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105407560 GALNT3 Health Risk Pathogenic —
RS2105419955 GALNT3 Health Risk Pathogenic —
RS2105423091 SCN1A Health Risk Pathogenic —
RS2105423415 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105424093 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105424748 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105425094 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105425236 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105425295 SCN1A Health Risk Likely pathogenic —
RS2105425687 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105425898 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105426198 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105426446 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105426467 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105427061 SCN1A Health Risk Likely pathogenic —
RS2105427253 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105428012 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105428344 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105428629 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105428686 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105428710 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105429381 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105429397 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105429444 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105429627 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105429648 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105430494 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105431024 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105431162 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105431242 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105431330 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105431458 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105432013 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105432236 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105432780 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105432939 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105433108 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433161 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433264 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433326 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433516 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433569 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105433731 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105433855 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105434276 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105434461 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105434822 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105434895 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105435603 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105443879 LRP2 Health Risk Likely pathogenic —
RS2105447216 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
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