Annotation Detail
Information
- Associated Genes
- CD93
- Associated Variants
-
HNRNPUL1 c.1688-138A>T
(
ENST00000263367.7,
ENST00000352456.7,
ENST00000378215.8,
ENST00000392006.8,
ENST00000593587.5,
ENST00000595018.5,
ENST00000602130.5,
ENST00000617774.1 )
OR13G1 p.Ile132Val (p.I132V) ( ENST00000642119.1 )
CD93 p.Pro541Ser (p.P541S) ( ENST00000246006.5 )
NC_000009.12:g.22096056A>G
HNRNPUL1 c.1688-138A>T ( ENST00000263367.7, ENST00000352456.7, ENST00000378215.8, ENST00000392006.8, ENST00000593587.5, ENST00000595018.5, ENST00000602130.5, ENST00000617774.1 )
OR13G1 p.Ile132Val (p.I132V) ( ENST00000642119.1 )
CD93 p.Pro541Ser (p.P541S) ( ENST00000246006.5 )
NC_000009.12:g.22096056A>G - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the olfactory receptor family 13 subfamily G member 1 (OR13G1) gene (HR 1.14, 95% CI 1.01-1.28, P = 0.03), the rs11881940 polymorphism in the heterogeneous nuclear ribonucleoprotein U-like 1 (HNRPUL1) gene (HR 1.27, 95% CI 1.07-1.51, P = 0.007), the rs3746731 polymorphism in the complement component 1 q subcomponent receptor 1 (CD93) gene (HR 1.26, 95% CI 1.06-1.49, P = 0.01), and the rs10757274 polymorphism near the cyclin-dependent kinase N2A and N2B (CDKN2A and CDKN2B) genes (HR 1.39, 95% CI 1.15-1.69, P < 0.001).
- Pubmed
- 18599554
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2008
Drugs