Annotation Detail
Information
- Associated Genes
- PHACTR1
- Associated Variants
-
ADAMTS7 p.Ser214Pro (p.S214P)
(
ENST00000388820.5 )
rs12526453 ( ENST00000332995.12, ENST00000674595.1, ENST00000674637.1, ENST00000676159.1, ENST00000689548.1 )
NC_000009.12:g.22098575A>G
ADAMTS7 p.Ser214Pro (p.S214P) ( ENST00000388820.5 )
rs12526453 ( ENST00000332995.12, ENST00000674595.1, ENST00000674637.1, ENST00000676159.1, ENST00000689548.1 )
NC_000009.12:g.22098575A>G - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs3825807, P = 6.5 × 10(-6)) and at PHACTR1 (rs12526453, P = 1.0 × 10(-3)) show a nominally significant association with coronary artery calcification with MI/CAD risk alleles increasing the degree of arterial calcification.
- Pubmed
- 23561647
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.252649485509251
- Year of publication
- 2013
Drugs