SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886039269 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039270 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS886039273 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS886039282 KIF7 Health Risk Pathogenic Multiple epiphyseal dysplasia, Al-Gazali type
RS886039296 ABCA12 Health Risk Likely pathogenic —
RS886039297 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS886039299 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886039300 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone dystrophy
RS886039302 ACTA1 Health Risk Likely pathogenic —
RS886039303 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS886039304 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS886039305 ALDH3A2 Health Risk Pathogenic —
RS886039306 ALG11 Health Risk Likely pathogenic —
RS886039307 ALOX12B Health Risk Pathogenic —
RS886039308 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS886039310 ASPM Health Risk Pathogenic —
RS886039311 BEST1 Health Risk Likely pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS886039312 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS886039313 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886039314 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886039315 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886039316 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886039318 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS886039319 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS886039320 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886039321 BTK Health Risk Likely pathogenic —
RS886039323 CACNA1E Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 69
RS886039324 CACNA1G Health Risk Likely pathogenic —
RS886039325 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS886039326 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS886039327 CEP152 Health Risk Pathogenic —
RS886039328 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS886039329 COL7A1 Health Risk Pathogenic —
RS886039330 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS886039331 CREBBP Health Risk Pathogenic —
RS886039332 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Abnormal lung growth
RS886039333 CYBB Health Risk Pathogenic —
RS886039334 CYBB Health Risk Pathogenic —
RS886039335 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886039336 CYBB Health Risk Pathogenic —
RS886039337 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886039338 CYBB Health Risk Pathogenic —
RS886039339 DCX Health Risk Pathogenic —
RS886039340 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS886039341 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS886039343 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS886039344 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS886039345 EBP Health Risk Pathogenic/Likely pathogenic MEND syndrome, MEND syndrome
RS886039346 EEF1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 33
RS886039347 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, See cases
RS886039348 EDAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS886039349 EFTUD2 Health Risk Pathogenic Hereditary syndromic Pierre Robin syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS886039351 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Cutis laxa
RS886039352 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS886039353 EXT1 Health Risk Pathogenic Exostoses, multiple
RS886039354 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS886039355 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Chondrosarcoma
RS886039356 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS886039357 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS886039358 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886039359 FAS Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS886039360 FBN1 Health Risk Pathogenic —
RS886039361 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS886039362 FH Health Risk Likely pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS886039363 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS886039364 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS886039365 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS886039366 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS886039367 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS886039368 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS886039369 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS886039370 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS886039371 FLCN Health Risk Pathogenic Colorectal cancer, Nonpapillary renal cell carcinoma
RS886039372 FZD4 Health Risk Likely pathogenic —
RS886039373 GABRA1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 19
RS886039374 GABRB2 Health Risk Pathogenic —
RS886039375 GABRB2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS886039376 GALNS Health Risk Likely pathogenic —
RS886039377 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS886039378 GCH1 Health Risk Likely pathogenic —
RS886039379 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS886039380 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS886039382 GMPPB Health Risk Pathogenic —
RS886039383 GNAS Health Risk Pathogenic —
RS886039384 GPC3 Health Risk Pathogenic —
RS886039385 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS886039386 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS886039387 CXorf65;IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS886039388 IRF6 Health Risk Pathogenic Orofacial cleft 6, susceptibility to
RS886039389 IRF6 Health Risk Pathogenic —
RS886039390 IRF6 Health Risk Pathogenic —
RS886039391 IRF6 Health Risk Pathogenic/Likely pathogenic Orofacial cleft 6, susceptibility to
RS886039392 ITPR1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Spinocerebellar ataxia type 29
RS886039393 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Deafness
RS886039394 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS886039395 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Martsolf syndrome 1
RS886039396 KCNB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 26
RS886039397 KCNT1 Health Risk Pathogenic —
RS886039398 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS886039399 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
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