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
RS1829265811 ELP1 Health Risk Pathogenic —
RS1829266738 ELP1 Health Risk Pathogenic —
RS182926808 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1829284063 GNE Health Risk Pathogenic —
RS1829284405 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1829294478 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS182930988 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1829322194 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS182934463 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1829352034 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829364614 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829367042 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829372756 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829386213 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1829386577 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1829394659 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1829396059 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1829396950 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1829401940 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1829405389 NDUFAF6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS1829405956 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS1829412663 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS182941675 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Vitelliform macular dystrophy 2
RS182942340 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1829434336 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS1829434454 PIGO Health Risk Pathogenic —
RS1829446449 PIGO Health Risk Pathogenic —
RS182946445 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS1829478568 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1829487527 TJP2 Health Risk Pathogenic —
RS182948893 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Inborn genetic diseases
RS1829490529 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829507609 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829533362 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1829544561 ELP1 Health Risk Pathogenic —
RS1829555179 ERCC6L2 Health Risk Pathogenic ERCC6L2-related disorder, ERCC6L2-related disorder
RS1829556476 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS1829557292 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1829557865 ERCC6L2 Health Risk Likely pathogenic —
RS1829558552 ELP1 Health Risk Pathogenic —
RS1829561209 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS182956712 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS182956726 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS182958473 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, Inborn genetic diseases
RS1829586683 ERCC6L2 Health Risk Pathogenic/Likely pathogenic —
RS1829591905 ERCC6L2 Health Risk Pathogenic —
RS1829605743 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829614049 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1829625950 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS182963279 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS182967518 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS1829697810 TG Health Risk Pathogenic —
RS1829698275 ELP1 Health Risk Pathogenic/Likely pathogenic ELP1-Associated Medulloblastoma, ELP1-Associated Medulloblastoma
RS1829698469 TG Health Risk Pathogenic —
RS1829700782 ELP1 Health Risk Pathogenic —
RS1829712320 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS182972044 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS182972491 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1829725848 VPS13A Health Risk Pathogenic —
RS1829726014 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1829728493 VPS13A Health Risk Pathogenic —
RS1829731758 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS182974545 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS182975255 KCNQ1 Health Risk Likely pathogenic —
RS1829753665 VPS13A Health Risk Pathogenic —
RS182977390 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS182980547 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS1829854608 ELP1 Health Risk Pathogenic —
RS1829859149 ERCC6L2 Health Risk Likely pathogenic —
RS182985921 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1829868500 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1829869628 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS182990046 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS1829935083 BAAT Health Risk Pathogenic Bile acid conjugation defect 1, Bile acid conjugation defect 1
RS1829945601 LAMC3 Health Risk Likely pathogenic —
RS1829962197 COL27A1 Health Risk Likely pathogenic —
RS1829991127 LAMC3 Health Risk Pathogenic —
RS1830019170 GOLGA2 Health Risk Likely pathogenic Neuromuscular disease, Developmental delay with hypotonia
RS1830025657 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS1830058898 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1830059125 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS183006469 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183007628 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS183011135 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS1830124408 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183013408 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1830150596 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS183015944 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1830170589 TJP2 Health Risk Pathogenic —
RS1830177686 SPOUT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS183018401 GRIA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Syndromic X-linked intellectual disability 94
RS1830201852 RELN Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS183021118 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1830214555 COL27A1 Health Risk Likely pathogenic —
RS1830219226 VPS13B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS183023758 CIROP Health Risk Pathogenic Heterotaxy, visceral
RS183024300 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS1830268919 RELN Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS1830269249 RELN Health Risk Likely pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS1830289381 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
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