Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
CFB SNV
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
CFB SNV
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Markers rs4151659 (mapping to CFB) and rs7762619 (mapping 5' of LTA) were the most strongly associated with T1D on DR3 (P=1.2 x 10(-9) and P=2 x 10(-12), respectively) and DR4 (P=4 x 10(-15) and P=8 x 10(-8), respectively) haplotypes.
- Pubmed
- 20054343
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116396628910506
- Year of publication
- 2010
Drugs