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
RS1399681796 EEF1A2 Health Risk Likely pathogenic —
RS139968311 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS139969658 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS139969671 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS139970401 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS1399711421 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS139971481 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1399717425 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1399720818 OTOA Health Risk Pathogenic —
RS139972151 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, PSEN2-related disorder
RS139972217 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS139972326 KIF18A Health Risk Conflicting classifications of pathogenicity —
RS139973362 MFSD2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1399740294 PUS1 Health Risk Likely pathogenic —
RS139974034 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS139974035 KRT16 Health Risk Conflicting classifications of pathogenicity KRT16-related disorder, Inborn genetic diseases
RS1399741348 COL2A1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, COL2A1-related disorder
RS139974572 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139974904 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1399754800 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS139975681 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS139977329 SLC5A5 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS139978727 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1399788808 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1399789771 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1399790840 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS139979318 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial dilated cardiomyopathy
RS139979391 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 10, Leber congenital amaurosis 11
RS139982397 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS1399824473 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS139983160 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiomyopathy
RS139983909 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS139984206 TFR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary hemochromatosis
RS1399847240 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139985214 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS1399856074 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome type 1, Proteinuria
RS139988853 COL4A6 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1399892057 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS139990077 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS139990565 GRIA3 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability 94, Thyroid cancer
RS139990606 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1399911403 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS139991163 STN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139991238 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS1399914687 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS139991645 SEPTIN14 Health Risk Conflicting classifications of pathogenicity —
RS139992374 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS139992576 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139993038 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1399931138 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1399932916 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1399941088 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1399954090 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Alport syndrome
RS1399955256 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS139995772 KIRREL1 Health Risk Pathogenic Nephrotic syndrome, type 23
RS1399958038 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1399970491 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS139997243 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, ARL13B-related disorder
RS1399973379 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1399979602 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS139998038 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS139998082 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS139998682 UBR4 Health Risk Conflicting classifications of pathogenicity —
RS139999174 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS140000324 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS140000699 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPTBN2-related disorder
RS140002194 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1400022403 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS140002610 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Intellectual disability
RS1400027699 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1400037080 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS140003804 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS1400042777 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS140004653 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS140005044 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1400051085 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140005285 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS140005424 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS140005450 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS1400057476 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1400065323 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS140009042 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1400104618 DOT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140010463 PNPLA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PNPLA8-related disorder
RS1400108198 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS140011636 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS1400121444 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1400121541 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS140012391 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS140012781 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS140013693 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS140014006 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140014115 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS140014632 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS140014925 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen phosphorylase kinase deficiency
RS140015315 ITGB6 Health Risk Pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS140015545 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1400161680 NIPBL Health Risk Conflicting classifications of pathogenicity See cases, Cornelia de Lange syndrome 1
RS140016178 PROP1 Health Risk Pathogenic/Likely pathogenic Combined pituitary hormone deficiencies, genetic form
RS140016265 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
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