Annotation Detail
Information
- Associated Genes
- PGR
- Associated Variants
-
ZMIZ1 c.-337+12121T>C
(
ENST00000334512.10 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
ZMIZ1 c.-337+12121T>C ( ENST00000334512.10 )
BABAM1 p.Lys279= (p.K279=), ENSG00000269307 c.*400+1986G>A ( ENST00000359435.8, ENST00000447614.6, ENST00000595632.5, ENST00000598188.6, ENST00000601043.5 )
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT rs10069690 in 5p15.33, rs704010 in 10q22.3, and rs8170 in 19p13.11): per allele ORs were 1.29 [95% confidence interval (CI) 1.04-1.59], P = 0.02, 1.52 (95% CI 1.12-2.08), P = 0.01, and 1.30 (95% CI 1.01-1.68), P = 0.04, respectively.
- Pubmed
- 23136140
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132074703529245
- Year of publication
- 2013
Drugs