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
RS199901955 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS199902153 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS199902670 STAG1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 47
RS199902822 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS199902847 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199902957 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1
RS199902986 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS199903114 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199903164 TMPRSS3 Health Risk Pathogenic Hearing loss, autosomal recessive
RS199903227 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS199903642 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS199903966 MYO5C Health Risk Conflicting classifications of pathogenicity —
RS199904029 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS199904223 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Ovarian serous cystadenocarcinoma
RS199904295 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS199904356 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS199904481 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS199904529 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS199904558 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS199905054 NSMCE3 Health Risk Pathogenic/Likely pathogenic Lung damage, immunodeficiency and chromosome breakage syndrome
RS199905093 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS199905288 KRIT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation
RS199905729 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS199905878 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS199906332 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS199906537 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199906671 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS199906865 GLYCTK Health Risk Conflicting classifications of pathogenicity D-Glyceric aciduria, D-Glyceric aciduria
RS199907508 SMPX Health Risk Conflicting classifications of pathogenicity Hearing loss, X-linked 4
RS199907548 CDKN2A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS199907664 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199907781 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199908032 D2HGDH Health Risk Likely pathogenic D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS199908120 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS199908179 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS199908540 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Complex neurodevelopmental disorder
RS199908714 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS199908878 B3GLCT Health Risk Pathogenic/Likely pathogenic Peters plus syndrome, B3GLCT-related disorder
RS199909021 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS199909093 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS199909156 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, VACTERL association
RS199909371 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, RNF43-related disorder
RS199909375 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Pallister-Hall syndrome
RS199909714 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS199909758 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS199909913 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS199909967 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS199910006 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS199910080 TREM2 Health Risk Conflicting classifications of pathogenicity TREM2-related disorder, TREM2-related disorder
RS199910091 TUBGCP2 Health Risk Conflicting classifications of pathogenicity TUBGCP2-related disorder, Malignant tumor of esophagus
RS199910114 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199910162 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS199910288 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Macular degeneration
RS199910297 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS199910432 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS199910484 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS199910503 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199910690 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel-Gruber syndrome
RS199910738 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS199910966 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199911379 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal recessive Alport syndrome
RS199911435 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199911454 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS199911532 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, Acute myeloid leukemia
RS199911951 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS199912375 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS199912561 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS199912711 FLNB Health Risk Conflicting classifications of pathogenicity —
RS199913053 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS199913622 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199913989 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS199914308 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS199914625 TCIRG1 Health Risk Pathogenic —
RS199914670 CEP152 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199914879 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS199914911 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS199915216 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS199915459 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199915497 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS199915629 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS199916182 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS199916345 RNF43 Health Risk Conflicting classifications of pathogenicity RNF43-related disorder, Hyperplastic polyposis syndrome
RS199916502 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS199916743 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, SYNE4-related disorder
RS199916850 HFE Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 1
RS199916968 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS199917289 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199917473 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Malignant tumor of esophagus
RS199917740 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS199917913 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS199917968 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS199918439 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS199918720 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS199918722 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199919065 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS199919181 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS199919434 UNC13A Health Risk Conflicting classifications of pathogenicity —
RS199919500 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS199919553 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS199919568 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
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