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rs1061147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.2 2.76x increased risk for Age Related Macular Degeneration.
(A;C) 1 Normal 0.97x risk for Age Related Macular Degeneration.
(C;C) 2.2 Reduced 0.34x risk of Age Related Macular Degeneration.
ReferenceGRCh38 38.1/141
Chromosome1
Position196685194
GeneCFH
is asnp
is mentioned by
dbSNPrs1061147
ebirs1061147
HLIrs1061147
Exacrs1061147
Varsomers1061147
Maprs1061147
PheGenIrs1061147
hapmaprs1061147
1000 genomesrs1061147
hgdprs1061147
ensemblrs1061147
gopubmedrs1061147
geneviewrs1061147
scholarrs1061147
googlers1061147
pharmgkbrs1061147
gwascentralrs1061147
openSNPrs1061147
23andMers1061147
23andMe allrs1061147
SNP Nexus

SNPshotrs1061147
SNPdbers1061147
MSV3drs1061147
GWAS Ctlgrs1061147
GMAF0.2952
Max Magnitude2.2
? (A;A) (A;C) (C;C) 28
may influence age related macular degeneration (damage to the eye with ageing) when part of the haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC), but does not appear to do so alone. [PMID 17167412]

age related macular degeneration [PMID 15870199OA-icon.png]

Neighborrs1061170
Distance4913
[PMID 16936733OA-icon.png] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.


[PMID 18043728OA-icon.png] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.


[PMID 19026761OA-icon.png] Molecular pathology of age-related macular degeneration.


[PMID 20339564OA-icon.png] Risk factors for age-related maculopathy.

GWAS snp
PMID [PMID 23326517OA-icon.png]
Trait Age-related macular degeneration
Title Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Risk Allele A
P-val 7E-32
Odds Ratio 1.40 [1.32-1.48]