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
RS146185666 SON Health Risk Conflicting classifications of pathogenicity —
RS146185976 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS146186205 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS146186348 KIF14 Health Risk Conflicting classifications of pathogenicity Microcephaly 20, primary
RS146186857 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS146187042 C8B Health Risk Pathogenic/Likely pathogenic Type II complement component 8 deficiency, Complement component 6 deficiency
RS146187044 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS146187323 GAS2L2 Health Risk Conflicting classifications of pathogenicity GAS2L2-related disorder, Ciliary dyskinesia
RS1461886025 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS1461895191 PDE6C Health Risk Likely pathogenic —
RS146190504 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146190510 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1461905374 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1461907039 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS146190978 PHYH Health Risk Conflicting classifications of pathogenicity —
RS146191537 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS146192032 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1461925348 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS146193366 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS1461946712 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1461947497 FAM20C Health Risk Pathogenic FAM20C-related disorder, Lethal osteosclerotic bone dysplasia
RS146194900 KCNK18 Health Risk Pathogenic KCNK18-related neurodevelopmental disorder, KCNK18-related neurodevelopmental disorder
RS146195006 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Isolated cryptophthalmia
RS146195280 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS146195310 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146195866 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS146195955 CNGA3 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Achromatopsia 2
RS1461960812 POLH Health Risk Pathogenic —
RS146196342 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS146196839 DGAT1 Health Risk Conflicting classifications of pathogenicity DGAT1-related disorder, DGAT1-related disorder
RS146197239 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1461973241 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS146198085 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1461981853 CANT1 Health Risk Pathogenic —
RS1461982823 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS146198369 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, NEBL-related disorder
RS1461984773 SP7 Health Risk Conflicting classifications of pathogenicity —
RS1461992033 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS146199636 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 23
RS146199720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS146199863 EXPH5 Health Risk Conflicting classifications of pathogenicity —
RS146200173 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1462004544 ADAMTS13 Health Risk Pathogenic —
RS146200756 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS146201109 ADARB1 Health Risk Conflicting classifications of pathogenicity —
RS1462011435 UNC93B1 Health Risk Likely pathogenic Herpes simplex encephalitis, susceptibility to
RS1462012083 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS146201511 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS146201603 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS146202502 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS146202702 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS1462028977 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS146202983 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1462031084 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS146203427 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS1462038794 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1462048687 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS146205352 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS146205427 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS1462060431 SPTA1 Health Risk Likely pathogenic Familial hemolytic anemia, Familial hemolytic anemia
RS146206123 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS1462064763 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1462077116 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1462082548 SCAPER Health Risk Pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS146209388 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1462094685 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS1462096457 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS146209687 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS146210693 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS146210785 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1462108134 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS1462109887 FOXL2 Health Risk Pathogenic —
RS146212122 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146213322 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS146214639 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS146215039 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1462159134 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1462161137 METTL23 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS146216767 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1462170681 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS146217095 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS146217922 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS146218010 ANAPC1 Health Risk Conflicting classifications of pathogenicity Rothmund-Thomson syndrome type 1, Rothmund-Thomson syndrome type 1
RS146218439 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1462186598 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1462190245 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS146219199 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS146219377 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS146220085 KCND2 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, KCND2-related disorder
RS146220228 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS146220233 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS146220690 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS146221263 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS146221635 SYCP1 Health Risk Conflicting classifications of pathogenicity Mycotic Aneurysm, Intracranial
RS146221660 RTEL1 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Dyskeratosis congenita
RS1462221945 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS146222625 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS146222650 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS146223051 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS146223261 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
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