rs3753396
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3753396(A;G) |
| Make rs3753396(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196726612 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3753396 |
| dbSNP (classic) | rs3753396 |
| ClinGen | rs3753396 |
| ebi | rs3753396 |
| HLI | rs3753396 |
| Exac | rs3753396 |
| Gnomad | rs3753396 |
| Varsome | rs3753396 |
| LitVar | rs3753396 |
| Map | rs3753396 |
| PheGenI | rs3753396 |
| Biobank | rs3753396 |
| 1000 genomes | rs3753396 |
| hgdp | rs3753396 |
| ensembl | rs3753396 |
| geneview | rs3753396 |
| scholar | rs3753396 |
| rs3753396 | |
| pharmgkb | rs3753396 |
| gwascentral | rs3753396 |
| openSNP | rs3753396 |
| 23andMe | rs3753396 |
| SNPshot | rs3753396 |
| SNPdbe | rs3753396 |
| MSV3d | rs3753396 |
| GWAS Ctlg | rs3753396 |
| GMAF | 0.2337 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
age related macular degeneration [PMID 18421087]
[PMID 19162324] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis
[PMID 18048322
] A forest-based approach to identifying gene and gene gene interactions.
[PMID 18162041] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.
[PMID 18483746] Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
[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 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.
[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 25798599] Susceptibility to Invasive Meningococcal Disease: Polymorphism of Complement System Genes and Neisseria meningitidis Factor H Binding Protein
| ClinVar | |
|---|---|
| Risk | rs3753396(G;G) |
| Alt | rs3753396(G;G) |
| Reference | Rs3753396(A;A) |
| Significance | Non-pathogenic |
| Disease | Basal laminar drusen Mesangiocapillary glomerulonephritis Macular degeneration Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | CFH |
| CLNDBN | Basal laminar drusen Mesangiocapillary glomerulonephritis, type II Macular degeneration Atypical hemolytic uremic syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.196695742A>G |
| CLNSRC | |
| CLNACC | RCV000314917.1, RCV000368440.1, RCV000369491.1, RCV000395568.1, |
[PMID 29398083] Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
