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
RS752895450 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, RECQL4-related disorder
RS752895938 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752897010 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS752897450 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752897486 ASNS Health Risk Conflicting classifications of pathogenicity —
RS752897516 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS752897955 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunoglobulin A deficiency 2, Immunodeficiency
RS752898108 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752898811 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS752899698 AEBP1 Health Risk Likely pathogenic —
RS752900825 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS752901414 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS752901695 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS752902118 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS752902474 PNKP Health Risk Pathogenic Microcephaly, seizures
RS752902486 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS752903377 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Congenital myopathy
RS752903521 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS752904598 PEX3 Health Risk Pathogenic/Likely pathogenic PEX3-related disorder, Peroxisome biogenesis disorder 10A (Zellweger)
RS752905024 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS752905387 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS752905540 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS752905665 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS752906680 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS752907087 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS75290777 COL17A1 Health Risk Pathogenic —
RS752907815 SPEG Health Risk Pathogenic —
RS752908017 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS752908663 TICAM1 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS752910161 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS752910449 NPHP4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS752910553 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS752911523 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS752911811 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS752913534 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS752914124 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS752914246 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS752914914 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS752916256 CTU2 Health Risk Likely pathogenic —
RS752916287 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS752916728 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS752918105 SCN1A Health Risk Likely pathogenic —
RS752918613 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS752918694 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Inborn genetic diseases
RS752919200 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS752919660 VMA22 Health Risk Conflicting classifications of pathogenicity —
RS752919688 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS752919962 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS752919965 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS752920772 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752920956 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS752921215 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS752921570 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS752922461 ALG1 Health Risk Pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS752922900 LRRC56 Health Risk Conflicting classifications of pathogenicity LRRC56-related disorder, LRRC56-related disorder
RS752923595 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy, Retinal dystrophy
RS752924139 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS752924362 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS752924679 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752925056 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS752926435 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752926571 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752926638 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS752927520 GOT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 82
RS752928106 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS752928207 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752930400 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS752931210 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS752931351 HPS4 Health Risk Conflicting classifications of pathogenicity —
RS752934195 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS752934825 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS752935094 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS752935686 SON Health Risk Conflicting classifications of pathogenicity —
RS752935814 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS752937018 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS752937110 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS752937387 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS752937543 NBAS Health Risk Likely pathogenic —
RS752939204 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS752940775 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, History of neurodevelopmental disorder
RS752940799 DYNC1I2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly
RS752940904 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS752941297 SPINK5 Health Risk Pathogenic/Likely pathogenic Increased circulating IgE concentration, Erythroderma
RS752941420 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS752941845 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752942007 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS752942122 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Meckel syndrome
RS752942769 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS752946123 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS752947034 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS752948071 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS752948085 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS752948913 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752948922 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS752949191 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS752949328 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS752950532 ANGPTL4 Health Risk Conflicting classifications of pathogenicity —
RS752951296 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS752951310 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS752951417 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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