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HSD17B1

Estradiol 17-beta-dehydrogenase 1

Germline Genetics

Summary of germline evidence for HSD17B1 and cancer

  • Ensembl Gene ID: ENSG00000108786
  • Ensembl Transcript ID/s: ENST00000585807
  • Entrez Gene ID: 3292
  • HGNC Gene Symbol: HSD17B1

Genome-wide association studies

HSD17B1 maps to cancer-SNP associations according to the following annotations:

SNPLocusPosition (b37)Risk alleleRAFP-valueEffect sizeCICancerPMIDCatalogTADLSDEPICT
2512_rs151329939 17q21.31 40959294 rs151329939-A 0.01 5E-9 0.1879 [0.12-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs151329939 17:39980000-40820000 r2>0.9 (17:40578033-41425463) -
2091_rs151329939 17q21.31 40959294 rs151329939-A 0.01 5E-9 0.1879 [0.12-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs151329939 17:39980000-40820000 r2>0.9 (17:40578033-41425463) -
2010_rs72826962 17q21.2 40836389 rs72826962-C 0.01 5E-9 1.2 [1.11-1.3] (Oncoarray) Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72826962 17:39980000-40820000 r2>0.9 (17:40578033-41249263) -
2431_rs72826962 17q21.2 40836389 rs72826962-C 0.01 5E-9 1.2 [1.11-1.3] (Oncoarray) Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72826962 17:39980000-40820000 r2>0.9 (17:40578033-41249263) -
2502_rs138672638 17q21.2 40578033 rs138672638-C 0.0096 1E-8 0.1833 [0.12-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs138672638 17:39980000-40820000 r2>0.2 (17:40088790-41040298) -
2081_rs138672638 17q21.2 40578033 rs138672638-C 0.0096 1E-8 0.1833 [0.12-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs138672638 17:39980000-40820000 r2>0.2 (17:40088790-41040298) -