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
RS41529049 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS41529445 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS41529844 HBA2 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN SUN PRAIRIE, Erythrocytosis
RS41530750 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN HEKINAN, HEMOGLOBIN HEKINAN
RS41542214 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS41545019 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS41546712 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS41548013 POLA1 Health Risk Conflicting classifications of pathogenicity X-linked reticulate pigmentary disorder, X-linked reticulate pigmentary disorder
RS41550117 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS41552412 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS41554817 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS41555416 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS41555714 MLH3 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Colorectal cancer
RS41556519 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS41557217 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS41562713 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS41562717 MSH3 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Clear cell carcinoma of kidney
RS41563714 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS42034 CDK6 Health Risk association Behcet disease, Behcet disease
RS421016 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type II, Gaucher disease type I
RS4240659 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinitis pigmentosa 88
RS4241211 SLC9A4 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS42490 RIPK2 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS4252041 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
RS4252187 PLG Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS4253006 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS4253012 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS4253046 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS4253196 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS4253208 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS4253228 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS4253373 KLKB1 Health Risk Conflicting classifications of pathogenicity KLKB1-related disorder, KLKB1-related disorder
RS4253426 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS4267009 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS4289320 ATP2C1 Health Risk Pathogenic —
RS429358 APOE Health Risk Conflicting classifications of pathogenicity; other; risk factor Alzheimer disease 2, Alzheimer disease
RS4316537 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS431825170 ADAMTS10 Health Risk Pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS431825171 LZTFL1 Health Risk Pathogenic Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
RS431825277 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825278 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825280 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825281 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825282 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825284 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825285 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825286 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825287 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825288 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825290 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825291 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825292 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825293 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825294 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825295 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825296 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825297 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825298 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS431825299 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825300 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825301 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825302 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825303 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825304 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825305 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825306 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825307 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825308 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825309 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825310 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825311 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825315 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825316 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825317 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825318 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825319 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825320 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825321 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825322 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825323 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825324 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825325 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825328 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825329 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825330 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825332 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825333 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825334 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825335 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825336 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825337 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825338 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825339 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825342 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825343 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825344 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825345 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825346 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825347 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825350 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
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