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
RS2105447247 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2105447944 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105448260 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105448524 SCN1A Health Risk Likely pathogenic —
RS2105449347 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105449751 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2105449923 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105449932 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2105455133 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS2105458487 NFE2L2 Health Risk Likely pathogenic Lung cancer, Lung cancer
RS2105459482 NFE2L2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, developmental delay
RS2105462218 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105462303 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105462778 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105466704 WDPCP Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS2105467271 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2105475598 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105475874 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105475961 SCN1A Health Risk Likely pathogenic —
RS2105475986 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105476040 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105476084 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105476313 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS2105476550 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105476619 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105476794 SCN1A Health Risk Likely pathogenic Sudden unexplained death in childhood, Sudden unexplained death in childhood
RS2105486615 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2105486716 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105487145 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105500878 WDPCP Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS2105507548 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105507958 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105508454 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105508605 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105509347 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105509369 SCN1A Health Risk Likely pathogenic —
RS2105509458 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105509598 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105509616 SCN1A Health Risk Likely pathogenic —
RS2105509873 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105510219 SP9 Health Risk Pathogenic Abnormal caudate nucleus morphology, Epileptic encephalopathy
RS2105510265 SP9 Health Risk Pathogenic Autistic behavior, Intellectual disability
RS2105510286 SP9 Health Risk Pathogenic 6 conditions, 6 conditions
RS2105510576 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105516384 LRP2 Health Risk Likely pathogenic —
RS2105516399 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2105520379 LCT Health Risk Pathogenic —
RS2105531423 LCT Health Risk Pathogenic —
RS2105537032 MBD5 Health Risk Pathogenic —
RS2105537748 LCT Health Risk Pathogenic —
RS2105547148 SCN1A Health Risk Likely pathogenic Seizure, Seizure
RS2105547851 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105562669 LCT Health Risk Pathogenic —
RS2105567922 CERKL Health Risk Pathogenic —
RS2105569036 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105569222 CERKL Health Risk Pathogenic —
RS2105569513 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105569536 CERKL Health Risk Pathogenic —
RS2105569550 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105569594 CERKL Health Risk Pathogenic —
RS2105569724 SCN1A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Early-infantile DEE
RS2105569996 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105570237 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105570349 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105570494 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105571117 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105571301 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105571316 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105571418 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105571544 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105571577 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105579086 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2105581875 PDE11A Health Risk Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS2105591537 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105591567 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105591602 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105592343 SCN1A Health Risk Likely pathogenic —
RS2105592653 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105593011 SCN1A Health Risk Likely pathogenic —
RS2105593110 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105593894 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105593982 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105594076 SCN1A Health Risk Likely pathogenic —
RS2105594483 NEUROD1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2105601199 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2105602706 NR4A2 Health Risk Likely pathogenic —
RS2105604954 NR4A2 Health Risk Pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2105605019 NR4A2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2105605124 NR4A2 Health Risk Pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2105605264 NR4A2 Health Risk Pathogenic Parkinson disease, late-onset
RS2105608859 NR4A2 Health Risk Pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2105609699 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105609833 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105610047 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105610084 SCN1A Health Risk Pathogenic —
RS2105610260 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105610528 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105610895 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105611998 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105612020 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
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