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
RS1554649344 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1554649366 NFIB Health Risk Pathogenic Macrocephaly, Intellectual disability
RS1554649675 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554651153 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651349 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS1554651360 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651364 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651365 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651368 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651373 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651375 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651376 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1554651379 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651381 RMRP Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
RS1554651382 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651385 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651387 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651395 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651396 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651397 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651399 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651400 RMRP Health Risk Pathogenic Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia
RS1554651403 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651404 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651405 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651411 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651413 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651414 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651418 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651422 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651423 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1554651424 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651425 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651427 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651428 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651430 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651439 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651445 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1554651446 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651447 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651451 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651453 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651455 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651461 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651462 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651464 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651466 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651469 RMRP Health Risk Pathogenic Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia
RS1554651471 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651473 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651479 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651481 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651486 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651489 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651491 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651499 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651503 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651505 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651506 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651507 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651508 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1554651512 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651513 RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651524 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651526 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651532 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651537 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554651543 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651544 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1554651552 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1554652265 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554652528 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder
RS1554652650 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554652870 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554652990 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554652998 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554652999 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1554653185 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653291 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome
RS1554653514 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653520 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653551 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653675 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653714 CYP11B1 Health Risk Pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1554653915 CDKN2A Health Risk Likely pathogenic Familial melanoma, Familial melanoma
RS1554653922 CDKN2A Health Risk Pathogenic Familial melanoma, Squamous cell carcinoma of the head and neck
RS1554653956 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS1554653976 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554654024 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1554654044 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554654052 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1554654224 CDKN2A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS1554655653 DOCK8 Health Risk Likely pathogenic —
RS1554656253 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS1554656266 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554656288 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554656382 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1554656411 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS1554656624 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1554656670 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
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