Annotation Detail
Information
- Associated Genes
- CHDH
- Associated Variants
-
rs501120
SMAD3 c.533-478T>C ( ENST00000714109.1, ENST00000327367.9, ENST00000714110.1, ENST00000679624.1, ENST00000681239.1, ENST00000558894.6, ENST00000537194.6, ENST00000560424.2, ENST00000714108.1, ENST00000540846.6, ENST00000439724.7 )
MIA3 c.3632-105A>C ( ENST00000344922.10, ENST00000340535.11 )
rs2943634
IRS1 SNV
rs383830
MTHFD1L c.1260-4955G>A ( ENST00000367321.8, ENST00000611279.4, ENST00000618312.4 )
NC_000009.12:g.22096056A>G
NC_000009.12:g.22125504G>C
rs501120
SMAD3 c.533-478T>C ( ENST00000327367.9, ENST00000439724.7, ENST00000537194.6, ENST00000540846.6, ENST00000558894.6, ENST00000560424.2, ENST00000679624.1, ENST00000681239.1, ENST00000714108.1, ENST00000714109.1, ENST00000714110.1 )
MIA3 c.3632-105A>C ( ENST00000340535.11, ENST00000344922.10 )
rs2943634
IRS1 SNV
rs383830
MTHFD1L c.1260-4955G>A ( ENST00000367321.8, ENST00000611279.4, ENST00000618312.4 )
NC_000009.12:g.22096056A>G
NC_000009.12:g.22125504G>C - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1.26), MIA3 rs17465637 (OR 1.10; 1.04-1.15), Ch2q36 rs2943634 (OR 1.08; 1.03-1.14), APC rs383830 (OR 1.10; 1.02, 1.18), MTHFD1L rs6922269 (OR 1.10; 1.03, 1.16), CXCL12 rs501120 (OR 1.12; 1.04, 1.20), and SMAD3 rs17228212 (OR 1.11; 1.05, 1.17) were all associated with CHD risk, but not with the CHD biomarkers and risk factors measured.
- Pubmed
- 21804106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00461451182536516
- Year of publication
- 2012
Drugs