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
RS1553568447 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553568456 EPHA4 Health Risk Likely pathogenic atypical cerebral palsy, atypical cerebral palsy
RS1553568528 TTN Health Risk Pathogenic —
RS1553568831 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553568833 SCN2A Health Risk Pathogenic unclassified developmental and epileptic encephalopathy, Autism spectrum disorder
RS1553568927 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553568970 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553568990 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS1553568995 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553568999 SCN2A Health Risk Likely pathogenic —
RS1553569010 SCN2A Health Risk Pathogenic Benign familial infantile epilepsy, Benign familial infantile epilepsy
RS1553569017 SCN2A Health Risk Likely pathogenic —
RS1553569023 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553569054 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553569081 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553569087 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553569122 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553569609 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553569659 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1553569662 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553569732 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553569739 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553569754 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553569789 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553571227 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1553571813 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1553571901 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553572740 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553572946 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553572967 PAX3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Waardenburg syndrome
RS1553572976 PAX3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, See cases
RS1553573286 NDUFA10 Health Risk Likely pathogenic —
RS1553574327 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1553574522 SCN2A Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1553574531 SCN2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553574729 SCN2A Health Risk Pathogenic —
RS1553574733 SCN2A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553575157 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553575159 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553575179 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553575191 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553575435 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1553575867 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1553576452 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553576774 MAP3K20 Health Risk Pathogenic/Likely pathogenic Myopathy, centronuclear
RS1553577362 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1553578312 CHRNG Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1553578407 MAP3K20 Health Risk Pathogenic Myopathy, centronuclear
RS1553578503 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553579092 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553579225 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553579251 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553579282 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553579305 SCN2A Health Risk Pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS1553579429 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553579488 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553579500 SCN2A Health Risk Pathogenic —
RS1553579543 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553580540 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553581397 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553583434 TTN Health Risk Likely pathogenic —
RS1553583544 SCN2A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553583550 SCN2A Health Risk Pathogenic —
RS1553583560 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1553583659 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553583712 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553584033 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553584053 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1553585262 CRYGC Health Risk Pathogenic Nuclear pulverulent cataract, Cataract 2
RS1553586069 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553586486 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553587071 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS1553589058 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1553590192 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553590211 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553590305 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553591732 SCN2A Health Risk Likely pathogenic —
RS1553591813 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1553591818 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553591922 TRIP12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553592703 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553592713 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553592757 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553592766 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553592771 TTN Health Risk Likely pathogenic —
RS1553592841 TTN Health Risk Pathogenic —
RS1553593030 SCN2A Health Risk Pathogenic —
RS1553593122 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553593177 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553593578 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1553593589 SCN2A Health Risk Likely pathogenic —
RS1553593676 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553593874 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553593917 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553593928 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome
RS1553593965 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553594009 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553594069 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1553594554 PAX3 Health Risk Likely pathogenic —
RS1553594600 PAX3 Health Risk Pathogenic —
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