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
RS80358303 FZD4 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS80358304 FZD4 Health Risk Pathogenic/Likely pathogenic —
RS80358305 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, autosomal dominant
RS80358306 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, Inborn genetic diseases
RS80358307 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, autosomal recessive
RS80358308 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, digenic
RS80358309 LRP5 Health Risk Pathogenic —
RS80358312 LRP5 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 4, autosomal recessive
RS80358313 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, autosomal recessive
RS80358317 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, Osteogenesis imperfecta
RS80358319 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS80358320 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS80358321 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, autosomal dominant
RS80358322 LRP5 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 4, autosomal dominant
RS80358331 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358333 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358335 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358337 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358341 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358343 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358344 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358345 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80358347 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80358349 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358351 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358356 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358359 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS80358360 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358361 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358362 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Inborn genetic diseases
RS80358363 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358364 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358365 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS80358366 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358367 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS80358368 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS80358369 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358370 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Abnormal brain morphology
RS80358371 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358372 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, De Lange syndrome
RS80358373 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358374 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358375 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358376 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358378 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358380 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS80358382 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358384 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358386 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS80358388 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358389 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358390 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358391 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS80358392 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358395 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358396 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358397 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358398 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358401 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358402 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358403 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358404 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358405 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358406 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358407 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358409 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358410 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358411 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358412 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358413 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80358414 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358416 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358417 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358418 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358419 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358420 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358421 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358422 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358423 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358425 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358426 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358427 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358428 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358429 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358430 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358431 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358432 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358434 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358435 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80358436 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80358437 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS80358438 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358439 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358440 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358441 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358442 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358443 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358444 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358446 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80358447 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
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