rs146519482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a hemochromatosis variant |
| Make rs146519482(C;C) |
| Make rs146519482(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 26091475 |
| Gene | HFE, LOC108783645 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146519482 |
| dbSNP (classic) | rs146519482 |
| ClinGen | rs146519482 |
| ebi | rs146519482 |
| HLI | rs146519482 |
| Exac | rs146519482 |
| Gnomad | rs146519482 |
| Varsome | rs146519482 |
| LitVar | rs146519482 |
| Map | rs146519482 |
| PheGenI | rs146519482 |
| Biobank | rs146519482 |
| 1000 genomes | rs146519482 |
| hgdp | rs146519482 |
| ensembl | rs146519482 |
| geneview | rs146519482 |
| scholar | rs146519482 |
| rs146519482 | |
| pharmgkb | rs146519482 |
| gwascentral | rs146519482 |
| openSNP | rs146519482 |
| 23andMe | rs146519482 |
| SNPshot | rs146519482 |
| SNPdbe | rs146519482 |
| MSV3d | rs146519482 |
| GWAS Ctlg | rs146519482 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs146519482(C;C) rs146519482(T;T) |
| Alt | rs146519482(C;C) rs146519482(T;T) |
| Reference | Rs146519482(G;G) |
| Significance | Pathogenic |
| Disease | Hemochromatosis type 1 |
| Variation | info |
| Gene | HFE |
| CLNDBN | Hemochromatosis type 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.26091703G>C; NC_000006.11:g.26091703G>T |
| CLNSRC | |
| CLNACC | RCV000208047.1, RCV000190906.1, |
