Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y)
(
ENST00000695981.1,
ENST00000695984.1,
ENST00000359637.3,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695979.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696029.1,
ENST00000696023.1,
ENST00000630130.2,
ENST00000696027.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695984.1, ENST00000695981.1, ENST00000696027.1, ENST00000696029.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696029.1, ENST00000696027.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000696028.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1 )
rs7542235
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( 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 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
rs7542235 - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degeneration, namely rs1061170 (Y402H), rs2274700 (A473A) and rs7542235 (CFHR1-3Δ), and tested for their associations with blood pressure and hypertension risk in a population-based cohort including 3,210 unrelated Chinese Hans (50-70 years of age) from Beijing and Shanghai.
- Pubmed
- 22848687
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2012
Drugs