Annotation Detail
Information
- Associated Genes
- CFHR1
- 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 )
rs16840639
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 )
rs16840639 - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Significant allelic associations with SLE were detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, P(meta) = 6.6×10(-8), OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, P(meta) = 2.9×10(-7), OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E.
- Pubmed
- 21637784
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs