rs1410996
| Orientation | minus |
| Stabilized | minus |
| Make rs1410996(C;C) |
| Make rs1410996(C;T) |
| Make rs1410996(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196727803 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1410996 |
| dbSNP (classic) | rs1410996 |
| ClinGen | rs1410996 |
| ebi | rs1410996 |
| HLI | rs1410996 |
| Exac | rs1410996 |
| Gnomad | rs1410996 |
| Varsome | rs1410996 |
| LitVar | rs1410996 |
| Map | rs1410996 |
| PheGenI | rs1410996 |
| Biobank | rs1410996 |
| 1000 genomes | rs1410996 |
| hgdp | rs1410996 |
| ensembl | rs1410996 |
| geneview | rs1410996 |
| scholar | rs1410996 |
| rs1410996 | |
| pharmgkb | rs1410996 |
| gwascentral | rs1410996 |
| openSNP | rs1410996 |
| 23andMe | rs1410996 |
| SNPshot | rs1410996 |
| SNPdbe | rs1410996 |
| MSV3d | rs1410996 |
| GWAS Ctlg | rs1410996 |
| GMAF | 0.461 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
age related macular degeneration [PMID 16936733
]
[PMID 19850835] The noncoding variant in complement factor H gene increases risk of exudative age-related macular degeneration in a Chinese population
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
| GWAS snp | |
|---|---|
| PMID | [PMID 20385826]
|
| Trait | Age-related macular degeneration |
| Title | Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) |
| Risk Allele | |
| P-val | 2E-111 |
| Odds Ratio | None None |
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 21139980] Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration
[PMID 22019782] A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
[PMID 17327825] An update on the genetics of age-related macular degeneration.
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 17962488] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population.
[PMID 18043728] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.
[PMID 18081690] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
[PMID 19117936] Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.
[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[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 20157618] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.
[PMID 20378180] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.
[PMID 21665990] Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
[PMID 21906714] Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study.
[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.
[PMID 23534868] CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients
| GWAS snp | |
|---|---|
| PMID | [PMID 23381943]
|
| Trait | End-stage coagulation |
| Title | Ischemic stroke is associated with the ABO locus: the EuroCLOT study. |
| Risk Allele | G |
| P-val | 1E-9 |
| Odds Ratio | .20 [0.14-0.27] unit increase |
[PMID 23233260] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
[PMID 23414945] Influence of CFH, HTRA1 and ARMS2 haplotype polymorphisms in the development of age-related macular disease
[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population
| ClinVar | |
|---|---|
| Risk | rs1410996(T;T) |
| Alt | rs1410996(T;T) |
| Reference | rs1410996(C;C) |
| Significance | Other |
| Disease | Age-related macular degeneration 4 |
| Variation | info |
| Gene | CFH |
| CLNDBN | Age-related macular degeneration 4 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.196696933G\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018024.4, |
[PMID 24974817] No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38
[PMID 24675670] Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels
