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
RS876661184 KCNJ2 Health Risk Pathogenic Short QT syndrome type 3, Short QT syndrome type 3
RS876661189 NBN Health Risk Likely pathogenic —
RS876661193 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661197 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661198 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS876661200 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876661202 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS876661203 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661205 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661206 SCN9A Health Risk Likely pathogenic —
RS876661207 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS876661208 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS876661210 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876661215 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related disorder, Hypertrophic cardiomyopathy
RS876661219 GRIN2B Health Risk Likely pathogenic Ataxia, intellectual deficiency
RS876661220 BRCA2 Health Risk Pathogenic —
RS876661222 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS876661224 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661225 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661226 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS876661229 JAG1 Health Risk Likely pathogenic —
RS876661231 FANCC Health Risk Likely pathogenic —
RS876661233 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661236 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS876661242 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS876661244 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Neoplasm
RS876661246 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS876661247 LRSAM1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS876661251 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS876661252 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS876661253 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661254 NBN Health Risk Likely pathogenic —
RS876661256 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661257 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS876661261 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661262 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS876661264 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS876661266 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661269 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS876661270 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS876661272 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS876661273 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661276 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS876661280 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661281 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661283 KIF1A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory
RS876661285 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS876661287 MPZ Health Risk Pathogenic —
RS876661288 SBF2 Health Risk Likely pathogenic —
RS876661290 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
RS876661291 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661295 AP4S1 Health Risk Pathogenic Hereditary spastic paraplegia 52, APS41-related disorder
RS876661296 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS876661297 TRNT1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS876661298 TRNT1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS876661299 TRNT1 Health Risk Pathogenic Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS876661300 NAPB Health Risk Pathogenic Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
RS876661301 TMIE Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 6, Sensorineural hearing loss disorder
RS876661302 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS876661304 FRAS1 Health Risk Likely pathogenic —
RS876661305 PARN Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS876661306 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS876661307 SASS6 Health Risk Pathogenic Microcephaly 14, primary
RS876661308 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS876661309 FLAD1 Health Risk Pathogenic Myopathy with abnormal lipid metabolism, Multiple acyl-CoA dehydrogenase deficiency
RS876661310 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism
RS876661311 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism
RS876661312 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism
RS876661313 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Myopathy with abnormal lipid metabolism
RS876661314 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS876661315 FLAD1 Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS876661316 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS876661317 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS876661318 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS876661319 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS876661320 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS876661321 ADIPOQ Health Risk risk factor Adiponectin deficiency, Adiponectin deficiency
RS876661322 ERLIN1 Health Risk Pathogenic Hereditary spastic paraplegia 62, Hereditary spastic paraplegia 62
RS876661323 GLI2 Health Risk Likely pathogenic Microform holoprosencephaly, Microform holoprosencephaly
RS876661324 GLI2 Health Risk Pathogenic Microform holoprosencephaly, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS876661325 GLI2 Health Risk Likely pathogenic Microform holoprosencephaly, Microform holoprosencephaly
RS876661326 GLI2 Health Risk Likely pathogenic Microform holoprosencephaly, Microform holoprosencephaly
RS876661327 GLI2 Health Risk Likely pathogenic Microform holoprosencephaly, Microform holoprosencephaly
RS876661328 FGF8 Health Risk Likely pathogenic Semilobar holoprosencephaly, Semilobar holoprosencephaly
RS876661329 FGF8 Health Risk Likely pathogenic Semilobar holoprosencephaly, Holoprosencephaly sequence
RS876661330 FGF8 Health Risk Pathogenic/Likely pathogenic Holoprosencephaly sequence, Hypogonadotropic hypogonadism 6 with or without anosmia
RS876661331 FGF8 Health Risk Likely pathogenic Holoprosencephaly sequence, See cases
RS876661332 FGFR1 Health Risk Likely pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS876661333 FGFR1 Health Risk Likely pathogenic Microform holoprosencephaly, Microform holoprosencephaly
RS876661334 FGFR1 Health Risk Pathogenic/Likely pathogenic Semilobar holoprosencephaly, Hypogonadotropic hypogonadism 2 with or without anosmia
RS876661335 FGFR1 Health Risk Likely pathogenic Holoprosencephaly sequence, Holoprosencephaly sequence
RS876661338 SLC34A1 Health Risk Pathogenic Hypercalcemia, infantile
RS876661341 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS876661342 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS876661345 EMD Health Risk Pathogenic Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
RS876661347 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS876661348 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS876661350 KCNQ1 Health Risk Pathogenic —
RS876661352 LMNA Health Risk Pathogenic —
RS876661363 MYBPC3 Health Risk Likely pathogenic —
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