rs3848519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | likely to be a benign variant |
| (A;C) | 1 | likely to be a benign variant |
| (C;C) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 57580104 |
| Gene | FECH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3848519 |
| dbSNP (classic) | rs3848519 |
| ClinGen | rs3848519 |
| ebi | rs3848519 |
| HLI | rs3848519 |
| Exac | rs3848519 |
| Gnomad | rs3848519 |
| Varsome | rs3848519 |
| LitVar | rs3848519 |
| Map | rs3848519 |
| PheGenI | rs3848519 |
| Biobank | rs3848519 |
| 1000 genomes | rs3848519 |
| hgdp | rs3848519 |
| ensembl | rs3848519 |
| geneview | rs3848519 |
| scholar | rs3848519 |
| rs3848519 | |
| pharmgkb | rs3848519 |
| gwascentral | rs3848519 |
| openSNP | rs3848519 |
| 23andMe | rs3848519 |
| SNPshot | rs3848519 |
| SNPdbe | rs3848519 |
| MSV3d | rs3848519 |
| GWAS Ctlg | rs3848519 |
| GMAF | 0.01607 |
| Max Magnitude | 1 |
aka c.163G>T (p.Gly55Cys)
Originally reported in OMIM and therefore ClinVar as a recessive variant for erythropoietic protoporphyria, but now considered to be benign or likely benign (in large part because it's seen more frequently than would be expected for a mutation of this type and because the change at the protein level is not considered that impactful).
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs3848519(A;A) rs3848519(T;T) |
| Alt | Rs3848519(A;A) rs3848519(T;T) |
| Reference | Rs3848519(C;C) |
| Significance | Other |
| Disease | Erythropoietic protoporphyria not specified |
| Variation | info |
| Gene | FECH |
| CLNDBN | Erythropoietic protoporphyria not specified |
| Reversed | 0 |
| HGVS | NC_000018.9:g.55247336C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000578.4, RCV000455178.1, |
