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rs3753394

From SNPedia

Orientationplus
Stabilizedplus
Make rs3753394(C;C)
Make rs3753394(C;T)
Make rs3753394(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196651787
GeneCFH
is asnp
is mentioned by
dbSNPrs3753394
ebirs3753394
HLIrs3753394
Exacrs3753394
Varsomers3753394
Maprs3753394
PheGenIrs3753394
hapmaprs3753394
1000 genomesrs3753394
hgdprs3753394
ensemblrs3753394
gopubmedrs3753394
geneviewrs3753394
scholarrs3753394
googlers3753394
pharmgkbrs3753394
gwascentralrs3753394
openSNPrs3753394
23andMers3753394
23andMe allrs3753394
SNP Nexus

SNPshotrs3753394
SNPdbers3753394
MSV3drs3753394
GWAS Ctlgrs3753394
GMAF0.2851
Max Magnitude
? (C;C) (C;T) (T;T) 28

linked to blindness in old age

rs3753394 carries a significantly increased risk for exudative AMD. [PMID 17167412]

linked to rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428

Significant associations were detected for AMD with rs3753394 rs800292 rs1329428

A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD

CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [PMID 16710702]


[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis

[PMID 18421087] Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.

[PMID 18483746OA-icon.png] Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.

[PMID 18515590] Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.

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

[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.

[PMID 19861685OA-icon.png] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

[PMID 20161815OA-icon.png] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

[PMID 21111031] Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.

[PMID 22035603OA-icon.png] Plasma biomarkers of oxidative stress and genetic variants in age-related macular degeneration.

GWAS snp
PMID [PMID 23028341OA-icon.png]
Trait Complement C3 and C4 levels
Title Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
Risk Allele C
P-val 7E-11
Odds Ratio .05 [0.030-0.070] g/L decrease


[PMID 23919682OA-icon.png] Complement alternative pathway genetic variation and Dengue infection in the Thai population


[PMID 24365176] Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy


[PMID 26296146] PREVALENCE OF THE COMPLEMENT FACTOR H AND GSTM1 GENES POLYMORPHISMS IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY