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BMI1

Polycomb complex protein BMI-1

Germline Genetics

Summary of germline evidence for BMI1 and cancer

  • Ensembl Gene ID: ENSG00000168283
  • Ensembl Transcript ID/s: ENST00000376663
  • Entrez Gene ID: 100532731; 648
  • HGNC Gene Symbol: BMI1

Genome-wide association studies

BMI1 maps to cancer-SNP associations according to the following annotations:

SNPLocusPosition (b37)Risk alleleRAFP-valueEffect sizeCICancerPMIDCatalogTADLSDEPICT
1395_rs10828317 10p12.2 22839628 rs10828317-T 0.68 2E-9 1.23 [1.15-1.32] Acute lymphoblastic leukemia (B-cell precursor) 23996088 https://www.ebi.ac.uk/gwas/search?query=rs10828317 10:22260000-23500000 r2>0.1 (10:22353942-23332435) -
1887_rs4748813 10p12.2 22846735 rs4748813-T NR 3E-20 1.3513513 [NR] Acute lymphoblastic leukemia (childhood) 29348612 https://www.ebi.ac.uk/gwas/search?query=rs4748813 10:22260000-23500000 - -
2623_rs72806318 10p12.31 22152198 rs72806318-A 0.0153 5E-19 0.2218 [0.17-0.27] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72806318 10:22260000-23500000 r2>0.4 (10:21686112-22625361) -
2202_rs72806318 10p12.31 22152198 rs72806318-A 0.0153 5E-19 0.2218 [0.17-0.27] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72806318 10:22260000-23500000 r2>0.4 (10:21686112-22625361) -
2204_rs72814839 10p12.2 22671968 rs72814839-C 0.0137 4E-13 0.1943 [0.14-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72814839 10:22260000-23500000 r2>0.9 (10:22426522-22729537) -
2625_rs72814839 10p12.2 22671968 rs72814839-C 0.0137 4E-13 0.1943 [0.14-0.25] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs72814839 10:22260000-23500000 r2>0.9 (10:22426522-22729537) -
2094_rs16922097 10p12.31 22500944 rs16922097-C 0.0189 1E-18 0.1968 [0.15-0.24] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs16922097 10:22260000-23500000 r2>0.7 (10:22392364-22729537) -
2515_rs16922097 10p12.31 22500944 rs16922097-C 0.0189 1E-18 0.1968 [0.15-0.24] unit increase Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs16922097 10:22260000-23500000 r2>0.7 (10:22392364-22729537) -
1335_rs11814448 10p12.31 22315843 rs11814448-C 0.02 9E-16 1.26 [1.18-1.35] Breast cancer 23535729 https://www.ebi.ac.uk/gwas/search?query=rs11814448 10:22260000-23500000 r2>0.9 (10:21877003-22685062) -
2368_rs11814448 10p12.31 22315843 rs11814448-C 0.02 6E-18 1.12 [1.06-1.19] (Oncoarray) Breast cancer 29059683 https://www.ebi.ac.uk/gwas/search?query=rs11814448 10:22260000-23500000 r2>0.9 (10:21877003-22685062) -