Annotation Detail
Information
- Associated Genes
- C1QBP
- Associated Variants
-
RPAIN c.*299A>G
(
ENST00000381209.8,
ENST00000405578.8,
ENST00000327154.10,
ENST00000381208.9,
ENST00000536255.6 )
C1QBP c.384-773C>T ( ENST00000574444.5, ENST00000225698.8 )
FCGR2A p.His167Arg (p.H167R) ( ENST00000699278.1, ENST00000367972.8, ENST00000699277.1, ENST00000271450.12, ENST00000699279.1 )
rs9856661
RPAIN c.*299A>G ( ENST00000327154.10, ENST00000381208.9, ENST00000381209.8, ENST00000405578.8, ENST00000536255.6 )
C1QBP c.384-773C>T ( ENST00000225698.8, ENST00000574444.5 )
FCGR2A p.His167Arg (p.H167R) ( ENST00000271450.12, ENST00000367972.8, ENST00000699277.1, ENST00000699278.1, ENST00000699279.1 )
rs9856661 - Associated Disease
- pneumonia
- Source Database
- DisGeNET
- Description
- Four risk single-nucleotide polymorphisms were significantly (p<0.0001) associated with severe pneumonia: rs1801274 (Fc fragment of immunoglobulin G, low-affinity IIA, receptor (FCGR2A) gene, chromosome 1; OR 2.68, 95% CI 1.69-4.25); rs9856661 (gene unknown, chromosome 3; OR 2.62, 95% CI 1.64-4.18); rs8070740 (RPA interacting protein (RPAIN) gene, chromosome 17; OR 2.67, 95% CI 1.63-4.39); and rs3786054 (complement component 1, q subcomponent binding protein (C1QBP) gene, chromosome 17; OR 3.13, 95% CI 1.89-5.17).
- Pubmed
- 21737555
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs