rs141853578
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3.9 | Possibly: somewhat higher risk for age-related macular degeneration |
| Make rs141853578(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 109764664 |
| Gene | CFI |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141853578 |
| dbSNP (classic) | rs141853578 |
| ClinGen | rs141853578 |
| ebi | rs141853578 |
| HLI | rs141853578 |
| Exac | rs141853578 |
| Gnomad | rs141853578 |
| Varsome | rs141853578 |
| LitVar | rs141853578 |
| Map | rs141853578 |
| PheGenI | rs141853578 |
| Biobank | rs141853578 |
| 1000 genomes | rs141853578 |
| hgdp | rs141853578 |
| ensembl | rs141853578 |
| geneview | rs141853578 |
| scholar | rs141853578 |
| rs141853578 | |
| pharmgkb | rs141853578 |
| gwascentral | rs141853578 |
| openSNP | rs141853578 |
| 23andMe | rs141853578 |
| SNPshot | rs141853578 |
| SNPdbe | rs141853578 |
| MSV3d | rs141853578 |
| GWAS Ctlg | rs141853578 |
| Max Magnitude | 3.9 |
c.355G>A, p.Gly119Arg, G119R
[PMID 23685748] This 2013 publication reports that rs141853578(T) is a rare, highly penetrant dominantly inherited missense mutation in the CFI gene conferring high risk for age-related macular degeneration (ARMD); (p = 3.79 × 10e-6; odds ratio 22.2, CI: 2.98-164.49).
More recent publications appear to be coming to a different consensus about this variant - namely, that it is more prevalent than thought, and, that it is less penetrant (i.e. if it raises ARMD risk at all, it's to a lesser degree than initially reported in 2013). For example:
- Odds ratio of 8.47 (CI: 1.04-69.00, p = 0.027) reported for a UK Caucasian cohort [PMID 25352734
] - Odds ratio of 2.6 reported for an American cohort [PMID 24036952]
- ClinVar's single submitter now annotates this as a variant of uncertain significance
| ClinVar | |
|---|---|
| Risk | rs141853578(T;T) |
| Alt | rs141853578(T;T) |
| Reference | Rs141853578(C;C) |
| Significance | Other |
| Disease | MACULAR DEGENERATION Atypical hemolytic-uremic syndrome 3 not specified |
| Variation | info |
| Gene | CFI |
| CLNDBN | MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO Atypical hemolytic-uremic syndrome 3 not specified |
| Reversed | 0 |
| HGVS | NC_000004.11:g.110685820C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000056257.2, RCV000056258.2, RCV000421445.1, |
