Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
HNRNPUL1 c.1688-138A>T
(
ENST00000263367.7,
ENST00000352456.7,
ENST00000378215.8,
ENST00000392006.8,
ENST00000593587.5,
ENST00000595018.5,
ENST00000602130.5,
ENST00000617774.1 )
GATA2 c.*482C>T ( ENST00000341105.7, ENST00000430265.6, ENST00000487848.6, ENST00000696466.1 )
rs10757278
HNRNPUL1 c.1688-138A>T ( ENST00000263367.7, ENST00000352456.7, ENST00000378215.8, ENST00000392006.8, ENST00000593587.5, ENST00000595018.5, ENST00000602130.5, ENST00000617774.1 )
GATA2 c.*482C>T ( ENST00000341105.7, ENST00000430265.6, ENST00000487848.6, ENST00000696466.1 )
rs10757278 - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI = 2.85-6.40, P < 0.01), GAC (OR = 1.50; 95%CI = 1.25-1.81, P < 0.01) and GAT (OR = 1.53; 95%CI = 1.12-2.09, P < 0.01) were CAD risk factors, whereas GTC was protective (OR = 0.48; 95%CI = 0.32-0.72, P < 0.01).
- Pubmed
- 24782050
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2014
Drugs