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
RS796052634 KCNQ2 Health Risk Pathogenic —
RS796052635 KCNQ2 Health Risk Likely pathogenic —
RS796052636 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Complex neurodevelopmental disorder
RS796052637 KCNQ2 Health Risk Pathogenic —
RS796052639 KCNQ2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS796052640 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052641 KCNQ2 Health Risk Pathogenic/Likely pathogenic Autistic behavior, Epicanthus
RS796052642 KCNQ2 Health Risk Pathogenic —
RS796052643 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052644 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS796052645 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052649 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052650 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS796052652 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052653 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052654 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS796052655 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052656 KCNQ2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Early-infantile DEE
RS796052657 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS796052658 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052663 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS796052664 KCNQ2 Health Risk Likely pathogenic —
RS796052665 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS796052666 KCNQ2 Health Risk Pathogenic —
RS796052667 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS796052668 KCNQ2 Health Risk Pathogenic —
RS796052670 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS796052672 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS796052674 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS796052675 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS796052676 KCNQ3 Health Risk Pathogenic Seizures, benign familial neonatal
RS796052677 KCNQ3 Health Risk Likely pathogenic —
RS796052678 KCNQ3 Health Risk Pathogenic/Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS796052680 KCNQ3 Health Risk Pathogenic —
RS796052686 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS796052688 KCTD7 Health Risk Pathogenic —
RS796052689 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS796052703 LIAS Health Risk Pathogenic —
RS796052719 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS796052726 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS796052727 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS796052728 MEF2C Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Neurodevelopmental disorder with hypotonia
RS796052733 MEF2C Health Risk Pathogenic Autism spectrum disorder, Intellectual disability
RS796052742 MFSD8 Health Risk Likely pathogenic Late-infantile neuronal ceroid lipofuscinosis, Late-infantile neuronal ceroid lipofuscinosis
RS796052749 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS796052752 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Macular dystrophy with central cone involvement
RS796052758 NHLRC1 Health Risk Pathogenic —
RS796052787 NRXN1 Health Risk Pathogenic —
RS796052794 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052795 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052796 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052797 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052798 PCDH19 Health Risk Likely pathogenic —
RS796052799 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052800 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052801 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052802 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052806 PCDH19 Health Risk Likely pathogenic —
RS796052807 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052811 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052812 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052813 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052816 PCDH19 Health Risk Likely pathogenic —
RS796052817 PCDH19 Health Risk Pathogenic —
RS796052819 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS796052820 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052822 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS796052825 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS796052826 PCDH19 Health Risk Pathogenic —
RS796052827 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052828 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052829 PCDH19 Health Risk Pathogenic —
RS796052830 PCDH19 Health Risk Pathogenic —
RS796052831 PCDH19 Health Risk Pathogenic —
RS796052832 PCDH19 Health Risk Pathogenic —
RS796052833 PCDH19 Health Risk Pathogenic —
RS796052834 PCDH19 Health Risk Pathogenic —
RS796052835 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052836 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052837 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS796052839 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS796052841 PCDH19 Health Risk Pathogenic —
RS796052842 PCDH19 Health Risk Pathogenic —
RS796052844 PCDH19 Health Risk Pathogenic —
RS796052850 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS796052859 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS796052860 PNKP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS796052861 PNKP Health Risk Pathogenic —
RS796052862 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS796052863 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS796052869 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS796052870 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS796052872 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS796052884 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS796052887 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS796052888 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS796052889 POLG Health Risk Likely pathogenic —
RS796052890 POLG Health Risk Likely pathogenic —
RS796052891 POLG Health Risk Pathogenic —
RS796052892 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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