rs3753394
| Orientation | plus |
| Stabilized | plus |
| Make rs3753394(C;C) |
| Make rs3753394(C;T) |
| Make rs3753394(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196651787 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3753394 |
| dbSNP (classic) | rs3753394 |
| ClinGen | rs3753394 |
| ebi | rs3753394 |
| HLI | rs3753394 |
| Exac | rs3753394 |
| Gnomad | rs3753394 |
| Varsome | rs3753394 |
| LitVar | rs3753394 |
| Map | rs3753394 |
| PheGenI | rs3753394 |
| Biobank | rs3753394 |
| 1000 genomes | rs3753394 |
| hgdp | rs3753394 |
| ensembl | rs3753394 |
| geneview | rs3753394 |
| scholar | rs3753394 |
| rs3753394 | |
| pharmgkb | rs3753394 |
| gwascentral | rs3753394 |
| openSNP | rs3753394 |
| 23andMe | rs3753394 |
| SNPshot | rs3753394 |
| SNPdbe | rs3753394 |
| MSV3d | rs3753394 |
| GWAS Ctlg | rs3753394 |
| GMAF | 0.2851 |
| Max Magnitude | 0 |
| ? | (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 rs3753394 rs800292 rs1061170 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 18483746
] 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 19026761] 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 19861685] 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 20161815] 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 22035603] Plasma biomarkers of oxidative stress and genetic variants in age-related macular degeneration.
| GWAS snp | |
|---|---|
| PMID | [PMID 23028341]
|
| 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 23919682] 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
[PMID 33387109] Association of HTRA1 and CFH gene polymorphisms with age-related macular degeneration in Ningbo, China.
