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
RS2492416400 PCDH15 Health Risk Pathogenic —
RS2492416436 PCDH15 Health Risk Pathogenic —
RS2492417837 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS2492423220 MYO3A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 30, Autosomal dominant nonsyndromic hearing loss 30
RS2492435861 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2492454012 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492460629 CDHR1 Health Risk Pathogenic —
RS2492475559 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492476596 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492476656 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492479034 CDHR1 Health Risk Pathogenic —
RS2492480959 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492481008 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492482259 KIF11 Health Risk Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492482275 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492482353 KIF11 Health Risk Pathogenic —
RS2492485397 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492486201 CDHR1 Health Risk Pathogenic —
RS2492486444 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492489031 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492489562 MAT1A Health Risk Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492490324 KIF11 Health Risk Pathogenic —
RS2492490339 KIF11 Health Risk Pathogenic —
RS2492490344 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492490361 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492492313 PDE6C Health Risk Pathogenic —
RS2492492590 PDE6C Health Risk Pathogenic Cone dystrophy 4, Cone dystrophy 4
RS2492495279 KIF11 Health Risk Pathogenic —
RS2492495295 KIF11 Health Risk Pathogenic —
RS2492495336 KIF11 Health Risk Likely pathogenic —
RS2492497226 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492497251 CDHR1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS2492504505 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2492504772 PDE6C Health Risk Pathogenic —
RS2492505234 CDHR1 Health Risk Pathogenic —
RS2492505338 CDHR1 Health Risk Likely pathogenic —
RS2492506474 PDE6C Health Risk Pathogenic —
RS2492507192 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS2492507222 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2492507254 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2492512589 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492515124 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492519143 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492519317 KIF11 Health Risk Pathogenic —
RS2492519396 KIF11 Health Risk Pathogenic —
RS2492519406 KIF11 Health Risk Pathogenic —
RS2492519684 CDHR1 Health Risk Pathogenic —
RS2492520861 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492520929 KIF11 Health Risk Pathogenic —
RS2492521157 KIF11 Health Risk Pathogenic —
RS2492522751 CDHR1 Health Risk Pathogenic —
RS2492523185 CDHR1 Health Risk Pathogenic —
RS2492525042 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492525112 KIF11 Health Risk Pathogenic —
RS2492525408 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492525639 KIF11 Health Risk Pathogenic —
RS2492526210 PDE6C Health Risk Pathogenic —
RS2492528918 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492531858 CDHR1 Health Risk Pathogenic —
RS2492534156 PDE6C Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2492536331 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492536610 KIF11 Health Risk Pathogenic —
RS2492536774 KIF11 Health Risk Likely pathogenic KIF11-related disorder, KIF11-related disorder
RS2492536798 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492536872 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492536937 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492538753 CDHR1 Health Risk Pathogenic —
RS2492539063 CDHR1 Health Risk Pathogenic —
RS2492539185 CDHR1 Health Risk Pathogenic —
RS2492539884 CDHR1 Health Risk Likely pathogenic —
RS2492540769 KIF11 Health Risk Pathogenic —
RS2492540806 KIF11 Health Risk Pathogenic —
RS2492541011 KIF11 Health Risk Pathogenic —
RS2492541014 KIF11 Health Risk Pathogenic —
RS2492543302 KIF11 Health Risk Pathogenic —
RS2492543409 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2492544220 KIF11 Health Risk Pathogenic —
RS2492544570 CDHR1 Health Risk Pathogenic —
RS2492544964 CDHR1 Health Risk Pathogenic —
RS2492546306 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492548014 CDHR1 Health Risk Likely pathogenic —
RS2492548156 CDHR1 Health Risk Pathogenic —
RS2492548718 PCDH15 Health Risk Pathogenic —
RS2492553794 MINPP1 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 16
RS2492554859 PCDH15 Health Risk Pathogenic —
RS2492555276 ANK3 Health Risk Pathogenic Classic medulloblastoma, Classic medulloblastoma
RS2492555524 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492563568 PDE6C Health Risk Likely pathogenic —
RS2492563607 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS2492571833 PDE6C Health Risk Pathogenic Isolated macular dystrophy, Isolated macular dystrophy
RS2492589341 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS2492625531 FOCAD Health Risk Pathogenic —
RS2492635186 MINPP1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 16
RS2492655340 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492656496 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492658988 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492659568 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2492660352 ANK2 Health Risk Pathogenic —
RS2492660425 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2492662538 FRA10AC1 Health Risk Pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
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