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
RS2483307125 COL9A1 Health Risk Likely pathogenic —
RS2483311809 INTS1 Health Risk Pathogenic —
RS2483312174 COL9A1 Health Risk Likely pathogenic COL9A1-related disorder, COL9A1-related disorder
RS2483312751 COL9A1 Health Risk Pathogenic —
RS2483318507 CYP21A2 Health Risk Likely pathogenic —
RS2483321372 GABBR1 Health Risk Likely pathogenic Delayed speech and language development, Intellectual disability
RS2483321731 CYP21A2 Health Risk Pathogenic —
RS2483326407 CYP21A2 Health Risk Pathogenic —
RS2483329842 CYP21A2 Health Risk Likely pathogenic —
RS2483339912 GABBR1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2483345536 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483346002 DLL1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483346100 DLL1 Health Risk Likely pathogenic —
RS2483346143 DLL1 Health Risk Pathogenic —
RS2483346798 DLL1 Health Risk Pathogenic —
RS2483347067 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483347423 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483348338 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483348372 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483348418 TAB2 Health Risk Likely pathogenic TAB2-related disorder, TAB2-related disorder
RS2483350170 DLL1 Health Risk Pathogenic —
RS2483351030 DLL1 Health Risk Pathogenic —
RS2483351391 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483352410 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483357984 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483358114 DLL1 Health Risk Pathogenic —
RS2483358297 DLL1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483358646 DLL1 Health Risk Likely pathogenic DLL1-related disorder, DLL1-related disorder
RS2483359338 TNXB Health Risk Likely pathogenic —
RS2483362480 DLL1 Health Risk Likely pathogenic —
RS2483362657 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483362975 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483363120 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483363365 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2483363426 DLL1 Health Risk Pathogenic —
RS2483363823 RARS2 Health Risk Pathogenic —
RS2483364598 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS2483365234 INTS1 Health Risk Pathogenic —
RS2483367033 RARS2 Health Risk Pathogenic —
RS2483370839 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2483372241 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS2483384714 TAB2 Health Risk Pathogenic —
RS2483385177 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483385319 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483385755 ENPP1 Health Risk Likely pathogenic Hypophosphatemic rickets, autosomal recessive
RS2483386092 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483386574 TAB2 Health Risk Pathogenic —
RS2483386818 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2483387310 COL9A1 Health Risk Likely pathogenic —
RS2483387574 TAB2 Health Risk Pathogenic —
RS2483388628 TAB2 Health Risk Pathogenic —
RS2483390825 TAB2 Health Risk Pathogenic —
RS2483392059 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483392655 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483392842 COL9A1 Health Risk Likely pathogenic —
RS2483393160 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483395150 TAB2 Health Risk Pathogenic —
RS2483396559 TAB2 Health Risk Pathogenic —
RS2483396825 TAB2 Health Risk Likely pathogenic —
RS2483397187 COL9A1 Health Risk Pathogenic —
RS2483397256 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2483397661 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483398618 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2483399171 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483399410 TAB2 Health Risk Pathogenic —
RS2483399424 TAB2 Health Risk Pathogenic —
RS2483399715 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483400097 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2483415527 TNXB Health Risk Pathogenic —
RS2483424286 TNXB Health Risk Pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS2483425306 COL9A1 Health Risk Likely pathogenic Stickler syndrome, Stickler syndrome
RS2483451503 THBS2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS2483454633 TNXB Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2483454898 COL9A1 Health Risk Likely pathogenic —
RS2483455914 COL9A1 Health Risk Pathogenic/Likely pathogenic Epiphyseal dysplasia, multiple
RS2483456409 COL9A1 Health Risk Likely pathogenic —
RS2483459179 COL9A1 Health Risk Pathogenic —
RS2483459746 ENPP1 Health Risk Likely pathogenic —
RS2483459984 COL9A1 Health Risk Pathogenic —
RS2483462090 ENPP1 Health Risk Likely pathogenic ENPP1-related disorder, ENPP1-related disorder
RS2483462219 SERAC1 Health Risk Likely pathogenic SERAC1-related neurological disorder, SERAC1-related neurological disorder
RS2483467270 COL9A1 Health Risk Pathogenic —
RS2483469257 COL9A1 Health Risk Likely pathogenic —
RS2483472550 COL9A1 Health Risk Pathogenic —
RS2483477141 ENPP1 Health Risk Likely pathogenic —
RS2483477529 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS2483486828 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2483489255 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2483496829 ENPP1 Health Risk Pathogenic —
RS2483500296 COL9A1 Health Risk Pathogenic —
RS2483504427 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS2483510755 ENPP1 Health Risk Likely pathogenic ENPP1-related disorder, ENPP1-related disorder
RS2483513145 ENPP1 Health Risk Likely pathogenic Hypophosphatemic rickets, autosomal recessive
RS2483527612 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2483528312 COL9A1 Health Risk Likely pathogenic —
RS2483530034 ENPP1 Health Risk Pathogenic —
RS2483532756 ENPP1 Health Risk Likely pathogenic —
RS2483538013 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483538120 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483547484 ENPP1 Health Risk Likely pathogenic Arterial calcification, generalized
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