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
RS1458654786 KYNU Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS1458669732 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS145867327 WARS2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS145867351 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS145867412 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS145867500 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS145867502 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1458677325 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS145867820 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1458682620 LZTR1 Health Risk Likely pathogenic Noonan syndrome 2, Cardiovascular phenotype
RS145868557 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS145868833 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1458693100 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS145869401 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS145869433 STARD9 Health Risk Conflicting classifications of pathogenicity STARD9-related disorder, STARD9-related disorder
RS1458700065 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS145870152 CTDP1 Health Risk Conflicting classifications of pathogenicity CTDP1-related disorder, CTDP1-related disorder
RS145870742 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145870973 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS145871479 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS145871645 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS145871721 FREM1 Health Risk Conflicting classifications of pathogenicity Sarcoma, Sarcoma
RS145871842 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Nonsyndromic genetic hearing loss
RS145872838 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1458728542 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1458728752 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1458734302 MLH3 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS145873635 ASAH1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, ASAH1-related disorders
RS145874555 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS145876317 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS145877597 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, PKD2-related disorder
RS145877746 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS145878044 TRPM4 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Progressive familial heart block type IB
RS145878385 CEP250 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, CEP250-related disorder
RS1458784088 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1458793437 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, PRPH2-related disorder
RS145879411 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS1458796820 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1458799446 RNF43 Health Risk Conflicting classifications of pathogenicity Neoplasm, Sessile serrated polyposis cancer syndrome
RS1458799604 EDNRB Health Risk Pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS145879963 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS1458807270 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31B
RS145880907 NFATC3 Health Risk Conflicting classifications of pathogenicity —
RS145881500 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS145881708 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS1458824013 ABCA12 Health Risk Pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS1458824689 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS145882709 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS145882956 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS145882968 SZT2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS1458831101 CLCN2 Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS145883811 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS145884404 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS145884431 FTO Health Risk Conflicting classifications of pathogenicity Lethal polymalformative syndrome, Boissel type
RS145884847 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Leprechaunism syndrome
RS1458851277 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS145885540 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS145886270 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS145886657 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS145886902 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS145887771 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS145888212 PEX14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Peroxisome biogenesis disorder
RS145888229 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 19
RS1458884973 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS145889244 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1458898996 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1458900761 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS145890213 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145891116 SI Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases
RS145891515 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1458915316 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS145891535 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS145891745 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145891813 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS145891889 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS145892183 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1458925593 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1458928910 ZEB1 Health Risk Pathogenic Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3
RS1458935187 COL17A1 Health Risk Pathogenic —
RS145893756 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS1458938381 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS145893879 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS145894044 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1458941582 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS1458942108 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS145894536 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS145895414 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS145895555 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS1458961443 SKIC2 Health Risk Pathogenic —
RS145896974 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS145897018 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, ADAMTSL2-related disorder
RS145897390 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS145897776 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS145897970 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS145898158 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS145899319 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS145899609 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145899734 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS145899844 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS145900411 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
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