SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS796052899 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS796052906 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS796052907 POLG Health Risk Pathogenic —
RS796052908 POLG Health Risk Pathogenic Global developmental delay, Obesity
RS796052913 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS796052916 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS796052919 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS796052923 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS796052924 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS796052925 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS796052927 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS796052936 PRRT2 Health Risk Likely pathogenic —
RS796052938 PRRT2 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Seizure
RS796052940 PRRT2 Health Risk Pathogenic —
RS796052941 PRRT2 Health Risk Pathogenic/Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia 1
RS796052943 PRRT2 Health Risk Pathogenic —
RS796052944 PRRT2 Health Risk Pathogenic —
RS796052949 SCARB2 Health Risk Pathogenic —
RS796052952 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796052953 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS796052954 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796052957 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS796052959 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796052960 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052961 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS796052962 SCN1A Health Risk Conflicting classifications of pathogenicity —
RS796052963 SCN1A Health Risk Likely pathogenic —
RS796052964 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796052965 SCN1A Health Risk Likely pathogenic —
RS796052971 SCN1A Health Risk Likely pathogenic —
RS796052972 SCN1A Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS796052973 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS796052974 SCN1A Health Risk Likely pathogenic —
RS796052976 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796052977 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796052982 SCN1A Health Risk Likely pathogenic —
RS796052983 SCN1A Health Risk Likely pathogenic —
RS796052984 SCN1A Health Risk Likely pathogenic —
RS796052985 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796052986 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS796052987 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796052988 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796052989 SCN1A Health Risk Pathogenic —
RS796052990 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052991 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS796052993 SCN1A Health Risk Pathogenic —
RS796052994 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS796052995 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796052997 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS796052999 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Severe myoclonic epilepsy in infancy
RS796053000 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796053001 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS796053004 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS796053005 SCN1A Health Risk Pathogenic —
RS796053006 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053007 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS796053008 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053009 SCN1A Health Risk Likely pathogenic —
RS796053010 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS796053011 SCN1A Health Risk Pathogenic SCN1A-related disorder, Early-infantile DEE
RS796053014 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS796053015 SCN1A Health Risk Likely pathogenic —
RS796053016 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053017 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796053018 SCN1A Health Risk Likely pathogenic —
RS796053019 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS796053020 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053021 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796053022 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053024 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS796053025 SCN1A Health Risk Likely pathogenic —
RS796053026 SCN1A Health Risk Pathogenic —
RS796053029 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS796053030 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS796053031 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053032 SCN1A Health Risk Likely pathogenic —
RS796053033 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053035 SCN1A Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy, Inborn genetic diseases
RS796053036 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS796053037 SCN1A Health Risk Conflicting classifications of pathogenicity See cases, Early-infantile DEE
RS796053038 SCN1A Health Risk Likely pathogenic —
RS796053039 SCN1A Health Risk Pathogenic —
RS796053040 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053041 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053042 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS796053043 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS796053046 SCN1A Health Risk Pathogenic —
RS796053047 SCN1A Health Risk Pathogenic —
RS796053048 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053049 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS796053050 SCN1A Health Risk Pathogenic —
RS796053051 SCN1A Health Risk Pathogenic —
RS796053052 SCN1A Health Risk Pathogenic —
RS796053053 SCN1A Health Risk Pathogenic —
RS796053054 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796053055 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796053056 SCN1A Health Risk Pathogenic —
RS796053057 SCN1A Health Risk Pathogenic —
RS796053058 SCN1A Health Risk Pathogenic —
RS796053059 SCN1A Health Risk Pathogenic —
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