rs121913059
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common genotype |
| Make rs121913059(C;T) |
| Make rs121913059(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 196747245 |
| Gene | CFH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913059 |
| dbSNP (classic) | rs121913059 |
| ClinGen | rs121913059 |
| ebi | rs121913059 |
| HLI | rs121913059 |
| Exac | rs121913059 |
| Gnomad | rs121913059 |
| Varsome | rs121913059 |
| LitVar | rs121913059 |
| Map | rs121913059 |
| PheGenI | rs121913059 |
| Biobank | rs121913059 |
| 1000 genomes | rs121913059 |
| hgdp | rs121913059 |
| ensembl | rs121913059 |
| geneview | rs121913059 |
| scholar | rs121913059 |
| rs121913059 | |
| pharmgkb | rs121913059 |
| gwascentral | rs121913059 |
| openSNP | rs121913059 |
| 23andMe | rs121913059 |
| SNPshot | rs121913059 |
| SNPdbe | rs121913059 |
| MSV3d | rs121913059 |
| GWAS Ctlg | rs121913059 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121913059(T;T) |
| Alt | rs121913059(T;T) |
| Reference | Rs121913059(C;C) |
| Significance | Other |
| Disease | Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4 |
| Variation | info |
| Gene | CFH |
| CLNDBN | Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.196716375C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018025.28, RCV000018026.7, RCV000022540.7, |
[PMID 26215151] Complement factor H R1210C among Japanese patients with age-related macular degeneration
