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
RS2468169278 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468169471 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468169955 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468171884 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468172289 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468175075 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468175355 TTN Health Risk Likely pathogenic —
RS2468176254 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468177005 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468177439 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468177772 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468179387 RAB3GAP1 Health Risk Likely pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468180014 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468180474 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468180880 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468181190 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468181691 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468181767 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468181816 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Epilepsy
RS2468181898 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468182008 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468182036 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468182055 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468182081 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468182158 SCN1A Health Risk Pathogenic Seizure, Seizure
RS2468182191 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468182211 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468182291 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468182597 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468182612 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2468182752 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468182873 SCN1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy
RS2468182935 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2468186571 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468186675 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468187611 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468188755 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468188834 SLC4A10 Health Risk Pathogenic/Likely pathogenic SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS2468188957 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468189109 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468189413 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS2468189894 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468190357 SCN1A Health Risk Pathogenic Early-infantile DEE, SCN1A-related disorder
RS2468190423 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468190605 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468190724 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468190770 SCN1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468191858 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468195562 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468195828 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468196548 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468197052 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468197337 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2468199618 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468200195 SCN1A Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy, Early-infantile DEE
RS2468200426 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468200459 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468200512 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468200648 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468200799 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2468202034 KIF5C Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS2468202435 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468204757 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468204803 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468208745 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468212127 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2468212452 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468212825 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468212841 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468214371 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS2468218576 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468218951 RAB3GAP1 Health Risk Likely pathogenic —
RS2468219408 TTC21B Health Risk Likely pathogenic Nephronophthisis 12, Nephronophthisis 12
RS2468220483 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468220881 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2468221116 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468221175 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468221393 RAB3GAP1 Health Risk Likely pathogenic —
RS2468221702 SCN1A Health Risk Pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS2468222768 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468223006 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468223021 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS2468223470 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468223530 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468224169 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468224333 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468224711 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468224825 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468224941 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468224999 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2468225315 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468225370 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468225401 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)
RS2468225448 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468225465 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468225592 SCN1A Health Risk Likely pathogenic —
RS2468227378 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468228555 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468231180 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468232013 SCN1A Health Risk Pathogenic —
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