Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.1696+2019G>A, CFH c.1696+2019G>A
(
ENST00000367429.9,
ENST00000695970.1,
ENST00000695976.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000695969.1,
ENST00000695981.1,
ENST00000695984.1,
ENST00000696029.1,
ENST00000696027.1,
ENST00000696028.1 )
ENSG00000289697 c.1696+2019G>A, CFH c.1696+2019G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- IgA glomerulonephritis
- Source Database
- DisGeNET
- Description
- Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the top signal for copy number variation.
- Pubmed
- 25205734
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126634157061766
- Year of publication
- 2014
Drugs