Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I)
(
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000630130.2,
ENST00000696023.1,
ENST00000696029.1,
ENST00000695978.1,
ENST00000695987.1,
ENST00000696027.1,
ENST00000695981.1,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695976.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695979.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 c.2413+1293G>A, CFH c.2413+1293G>A ( ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695974.1, ENST00000695969.1, ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 c.2413+1293G>T, CFH c.2413+1293G>T ( ENST00000696028.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.2413+1293G>A, CFH c.2413+1293G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.2413+1293G>T, CFH c.2413+1293G>T ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × 10(-13)), the SNPs rs1410996 (p = 0.0001), rs800292 (p = 0.003), rs12144939 (p = 4.60 × 10(-6)) in CFH, rs4151667 (p = 1.01 × 10(-5)) in CFB and individual haplotypes in CFH and CFB.
- Pubmed
- 24675670
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs