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
RS200860702 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS200860772 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200861036 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS200861145 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS200861471 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS200862250 LAS1L Health Risk Conflicting classifications of pathogenicity Wilson-Turner syndrome, Intellectual disability
RS200862689 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS200862764 SLC5A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial renal glucosuria
RS200862792 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS200863258 TCTN1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Meckel-Gruber syndrome
RS200863318 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, Inborn genetic diseases
RS200863613 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS200863680 POMGNT1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 76, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS200863692 OXR1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS200863731 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS200864007 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS200864020 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200864129 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200864338 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Nonsyndromic genetic hearing loss
RS200864382 HERC2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS200864554 PPIB Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Inborn genetic diseases
RS200864778 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, LAMA4-related disorder
RS200865108 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 13
RS200865199 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200865261 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS200865354 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200865355 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS200865469 FLI1 Health Risk Conflicting classifications of pathogenicity Bleeding disorder, platelet-type
RS200865872 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS200865985 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200866082 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Inborn genetic diseases
RS200866361 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS200866801 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS200866883 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200866893 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS200866898 HPD Health Risk Conflicting classifications of pathogenicity Hawkinsinuria, Tyrosinemia type III
RS200866925 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS200867122 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS200868190 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS200868559 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200868774 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200869871 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Hereditary coproporphyria
RS200870056 CTSK Health Risk Conflicting classifications of pathogenicity Pyknodysostosis, Pyknodysostosis
RS200870100 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200870329 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS200870584 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200870815 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS200870836 SPECC1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS200871004 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS200871041 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS200871198 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, HEXA-related disorder
RS200871227 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS200871280 TECTA Health Risk Conflicting classifications of pathogenicity —
RS200871433 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200871551 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200871631 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS200871690 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS200872349 KCNQ2 Health Risk Conflicting classifications of pathogenicity See cases, Early-infantile DEE
RS200872504 CYB5R3 Health Risk Conflicting classifications of pathogenicity METHEMOGLOBINEMIA, TYPE II
RS200872797 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS200872830 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200872929 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS200872948 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS200872976 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS200873074 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell nevus syndrome 1
RS200873328 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS200873401 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Alport syndrome
RS200873740 FOCAD Health Risk Pathogenic Liver disease, severe congenital
RS200874068 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS200874183 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS200874223 RHAG Health Risk Conflicting classifications of pathogenicity —
RS200874264 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200874294 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS200874968 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS200875393 CARMIL2 Health Risk Conflicting classifications of pathogenicity CARMIL2-related disorder, CARMIL2-related disorder
RS200875721 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS200876333 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200876438 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, Inborn genetic diseases
RS200876654 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS200876976 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200877272 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200877676 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Seizures
RS200877999 CYB5R3 Health Risk Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS200878136 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS200878464 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200878518 ZNF618 Health Risk Conflicting classifications of pathogenicity —
RS200878822 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS200879198 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS200879286 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS200879349 SLC19A2 Health Risk Conflicting classifications of pathogenicity —
RS200879397 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS200879808 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS200879869 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS200880379 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS200880797 POLR1A Health Risk Conflicting classifications of pathogenicity Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS200881135 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, CFI-related disorder
RS200881174 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS200881673 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS200881715 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS200881798 EXOSC8 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia, type 1C
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