rs1329428
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | ? | |
| (G;G) | 2.1 | 2x increased risk for macular degeneration |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196733680 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1329428 |
| dbSNP (classic) | rs1329428 |
| ClinGen | rs1329428 |
| ebi | rs1329428 |
| HLI | rs1329428 |
| Exac | rs1329428 |
| Gnomad | rs1329428 |
| Varsome | rs1329428 |
| LitVar | rs1329428 |
| Map | rs1329428 |
| PheGenI | rs1329428 |
| Biobank | rs1329428 |
| 1000 genomes | rs1329428 |
| hgdp | rs1329428 |
| ensembl | rs1329428 |
| geneview | rs1329428 |
| scholar | rs1329428 |
| rs1329428 | |
| pharmgkb | rs1329428 |
| gwascentral | rs1329428 |
| openSNP | rs1329428 |
| 23andMe | rs1329428 |
| SNPshot | rs1329428 |
| SNPdbe | rs1329428 |
| MSV3d | rs1329428 |
| GWAS Ctlg | rs1329428 |
| GMAF | 0.4408 |
| Max Magnitude | 2.1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
linked to blindness in age related macular degeneration
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]
| GWAS snp | |
|---|---|
| PMID | [PMID 20861866 ]
|
| Trait | |
| Title | Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration |
| Risk Allele | |
| P-val | 3E-64 |
| Odds Ratio | 2.78 [NR] |
[PMID 15761122] Complement factor H polymorphism in age-related macular degeneration.
[PMID 16936733] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.
[PMID 17167412] Association of complement factor H polymorphisms with exudative age-related macular degeneration.
[PMID 18048322] A forest-based approach to identifying gene and gene gene interactions.
[PMID 18421087] Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.
[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 19208169] A random forest approach to the detection of epistatic interactions in case-control studies.
[PMID 19412524] Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy.
[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[PMID 20122224] A multi-filter enhanced genetic ensemble system for gene selection and sample classification of microarray data.
[PMID 20161815] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.
[PMID 20181037] Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.
[PMID 21111031] Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.
[PMID 21342556] The choice of null distributions for detecting gene-gene interactions in genome-wide association studies.
[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
