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
RS192822778 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS192823093 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1928233784 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1928241490 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS192826739 GPAT2 Health Risk Likely pathogenic Male infertility, Male infertility
RS192827581 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, ANKRD26-related disorder
RS1928277140 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928279286 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1928285510 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928287177 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928287649 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS192831239 PAICS Health Risk Pathogenic Phosphoribosylaminoimidazole carboxylase deficiency, Phosphoribosylaminoimidazole carboxylase deficiency
RS1928319806 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928321045 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928323615 GLA Health Risk Likely pathogenic Fabry disease, Cardiovascular phenotype
RS1928326107 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928326524 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928326653 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928326804 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928349391 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928350631 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928355133 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928355433 CYB5R3 Health Risk Likely pathogenic —
RS1928356260 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928358562 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS192835895 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1928359639 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS192836330 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1928365677 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928365871 FRMD7 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1928365978 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928369132 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928370474 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928374520 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928375176 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928375454 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1928379522 PCDH19 Health Risk Pathogenic —
RS1928380918 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1928383077 PCDH19 Health Risk Likely pathogenic Refractory epilepsy with Lennox Gastaut syndrome, Refractory epilepsy with Lennox Gastaut syndrome
RS1928383528 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS192838388 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1928388987 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928395285 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928395725 SMARCB1 Health Risk Pathogenic —
RS1928398128 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928400256 SMARCB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1928400754 SMARCB1 Health Risk Pathogenic —
RS1928405180 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928405402 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928405533 SMARCB1 Health Risk Likely pathogenic —
RS1928406047 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928406808 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928406948 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1928407149 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928407580 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1928407939 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928409516 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS1928410872 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928411447 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS1928424117 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928424443 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928426655 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS192842970 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1928431321 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928435502 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS192843629 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1928436463 FRMD7 Health Risk Pathogenic —
RS1928437614 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928438552 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928439241 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928439511 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928440191 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928441222 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928445406 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928446616 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928448324 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928449770 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928452385 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS192845338 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1928454112 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928457396 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928457666 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928459143 PCDH19 Health Risk Pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1928460473 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928462092 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928462873 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1928463633 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928471120 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1928472916 FRMD7 Health Risk Pathogenic —
RS1928479952 PCDH19 Health Risk Pathogenic Neurodevelopmental delay, Developmental and epileptic encephalopathy
RS1928480582 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS192849943 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LRP2-related disorder
RS1928500368 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS192853475 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS1928536961 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1928539937 SMARCB1 Health Risk Pathogenic —
RS1928556991 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1928558096 SNAP29 Health Risk Likely pathogenic —
RS1928559435 SNAP29 Health Risk Pathogenic/Likely pathogenic CEDNIK syndrome, CEDNIK syndrome
RS192857413 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
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