Annotation Detail
Information
- Associated Genes
- SLC38A1
- Associated Variants
-
MTRR c.1557+95G>A
(
ENST00000264668.6,
ENST00000440940.7 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 )
MTRR c.1557+95G>A ( ENST00000264668.6, ENST00000440940.7 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930) and breast cancer was mainly evident in premenopausal women (OR 2.70, 95% CI 1.20-6.07), while the MTRR SNP (rs162049) was significant in postmenopausal women (OR 1.61, 95% CI 1.07-2.44).
- Pubmed
- 20180013
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00678604680200758
- Year of publication
- 2010
Drugs