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
RS1486270427 KIZ Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS1486271481 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS1486280029 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS148628141 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS148628152 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS148629796 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1486299333 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS148630223 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS148630367 NIN Health Risk Conflicting classifications of pathogenicity NIN-related disorder, NIN-related disorder
RS1486303961 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS148631462 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS148631577 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS148632434 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148633216 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS1486335553 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS148634289 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS148634904 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS1486350523 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS148636080 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS148636776 SH2B3 Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Thrombocythemia 1
RS1486368788 PRKCG Health Risk Likely pathogenic Hereditary ataxia, Hereditary ataxia
RS148636883 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS148637748 SSR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148637820 PPP6R2 Health Risk Conflicting classifications of pathogenicity —
RS148637964 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS148638156 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS148638616 TBCEL-TECTA;TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS148639841 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder
RS148640214 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS148640446 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, GSS-related disorder
RS148641194 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS148641361 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS148641800 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS148641957 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM6B-related disorder
RS148642064 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS148642741 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS1486435006 F8 Health Risk Likely pathogenic —
RS148643501 WDR72 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
RS148643665 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS148644578 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, NBAS-related disorder
RS148644997 COPB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1486450052 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS1486452597 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1486454956 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1486460574 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETBP1-related disorder
RS1486461236 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS148646143 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS148646265 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1486464304 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS148646547 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS148646968 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS148647206 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS148647933 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS148647954 CD3E Health Risk Conflicting classifications of pathogenicity Immunodeficiency 18, Immunodeficiency 18
RS1486482604 KCNV2 Health Risk Pathogenic/Likely pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS148648480 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS148649390 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, HOXB13-related disorder
RS148649507 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS1486504113 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS148650935 DNAJB13 Health Risk Conflicting classifications of pathogenicity DNAJB13-related disorder, DNAJB13-related disorder
RS148651377 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS148652044 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS148652047 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS1486529587 AP3B2 Health Risk Pathogenic —
RS148653061 SLC29A4 Health Risk Conflicting classifications of pathogenicity —
RS148653339 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS148653755 CEP131 Health Risk Conflicting classifications of pathogenicity —
RS1486544403 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148654588 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KCNQ2-related disorder
RS148654834 ANK2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1486551074 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1486555733 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1486560342 JAK2 Health Risk Likely pathogenic —
RS148656615 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1486566170 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS148656779 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS148657084 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS148657311 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS1486585360 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1486594906 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS148659928 CD96 Health Risk Conflicting classifications of pathogenicity —
RS148660051 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS148660170 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS148660796 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS1486611027 IL7 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS148661165 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS148661902 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS148661980 PC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency
RS1486622300 SLC12A1 Health Risk Likely pathogenic —
RS1486623736 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS148662426 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS148662665 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related disorder
RS148662747 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS1486627670 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS148662935 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS1486630796 EIF2B1 Health Risk Pathogenic —
RS148663427 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS1486636299 IFT56 Health Risk Likely pathogenic Biliary, renal
RS148663672 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS148663745 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
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