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
RS796052329 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 3
RS796052335 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS796052336 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS796052338 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS796052345 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS796052349 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052351 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052355 CLN6 Health Risk Pathogenic —
RS796052356 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Spastic ataxia
RS796052374 CNTNAP2 Health Risk Pathogenic —
RS796052388 CNTNAP2 Health Risk Pathogenic —
RS796052396 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052400 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052407 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS796052421 EFHC1 Health Risk Pathogenic —
RS796052424 EPM2A Health Risk Pathogenic Lafora disease, Myoclonic epilepsy of Lafora 1
RS796052427 EPM2A Health Risk Likely pathogenic Lafora disease, Lafora disease
RS796052428 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Lafora disease
RS796052434 EPM2A Health Risk Likely pathogenic —
RS796052452 FOXG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS796052456 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS796052458 FOXG1 Health Risk Pathogenic —
RS796052461 FOXG1 Health Risk Pathogenic Severe intellectual deficiency, FOXG1 disorder
RS796052462 FOXG1 Health Risk Pathogenic Inborn genetic diseases, FOXG1 disorder
RS796052463 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS796052464 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS796052465 FOXG1 Health Risk Pathogenic —
RS796052468 FOXG1 Health Risk Pathogenic —
RS796052469 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS796052474 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS796052476 FOXG1 Health Risk Pathogenic —
RS796052477 FOXG1 Health Risk Pathogenic —
RS796052481 FOXG1 Health Risk Likely pathogenic —
RS796052484 FOXG1 Health Risk Likely pathogenic —
RS796052485 FOXG1 Health Risk Pathogenic —
RS796052486 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS796052488 GABRA1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy
RS796052491 GABRA1 Health Risk Pathogenic Epilepsy, childhood absence 4
RS796052492 GABRA1 Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS796052493 GABRA1 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS796052494 GABRA1 Health Risk Likely pathogenic —
RS796052495 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS796052496 GABRA1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19
RS796052497 GABRA1 Health Risk Likely pathogenic —
RS796052502 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS796052503 GABRG2 Health Risk Likely pathogenic —
RS796052504 GABRG2 Health Risk Pathogenic Lennox-Gastaut syndrome, Febrile seizures
RS796052505 GABRG2 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS796052507 GABRG2 Health Risk Pathogenic —
RS796052508 GABRG2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 74
RS796052509 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS796052510 GABRG2 Health Risk Likely pathogenic Febrile seizures, familial
RS796052511 GABRG2 Health Risk Likely pathogenic GABRG2-related disorder, GABRG2-related disorder
RS796052515 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS796052518 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS796052520 GABRG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS796052525 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS796052527 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS796052542 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052545 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052547 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052548 GRIN2A Health Risk Pathogenic —
RS796052549 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Seizure
RS796052550 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052551 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052553 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS796052560 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS796052564 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Complex neurodevelopmental disorder
RS796052569 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS796052570 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS796052571 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS796052578 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS796052585 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS796052590 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS796052593 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS796052595 KANSL1 Health Risk Pathogenic —
RS796052596 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS796052603 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS796052604 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, EAST syndrome
RS796052606 KCNJ10 Health Risk Likely pathogenic EAST syndrome, EAST syndrome
RS796052613 KCNQ2 Health Risk Pathogenic —
RS796052614 KCNQ2 Health Risk Pathogenic —
RS796052615 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS796052616 KCNQ2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Early-infantile DEE
RS796052617 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS796052618 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS796052619 KCNQ2 Health Risk Pathogenic/Likely pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS796052620 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052621 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, Seizures
RS796052622 KCNQ2 Health Risk Likely pathogenic —
RS796052623 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052624 KCNQ2 Health Risk Pathogenic —
RS796052625 KCNQ2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Inborn genetic diseases
RS796052626 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS796052627 KCNQ2 Health Risk Pathogenic —
RS796052629 KCNQ2 Health Risk Pathogenic —
RS796052630 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS796052631 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, KCNQ2-related disorder
RS796052632 KCNQ2 Health Risk Likely pathogenic —
RS796052633 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
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