rs41303501
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41303501(A;A) |
| Make rs41303501(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 100629279 |
| Gene | TFR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41303501 |
| dbSNP (classic) | rs41303501 |
| ClinGen | rs41303501 |
| ebi | rs41303501 |
| HLI | rs41303501 |
| Exac | rs41303501 |
| Gnomad | rs41303501 |
| Varsome | rs41303501 |
| LitVar | rs41303501 |
| Map | rs41303501 |
| PheGenI | rs41303501 |
| Biobank | rs41303501 |
| 1000 genomes | rs41303501 |
| hgdp | rs41303501 |
| ensembl | rs41303501 |
| geneview | rs41303501 |
| scholar | rs41303501 |
| rs41303501 | |
| pharmgkb | rs41303501 |
| gwascentral | rs41303501 |
| openSNP | rs41303501 |
| 23andMe | rs41303501 |
| SNPshot | rs41303501 |
| SNPdbe | rs41303501 |
| MSV3d | rs41303501 |
| GWAS Ctlg | rs41303501 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41303501(A;A) |
| Alt | rs41303501(A;A) |
| Reference | Rs41303501(G;G) |
| Significance | Other |
| Disease | Hemochromatosis Hemochromatosis type 3 Hemochromatosis type 1 |
| Variation | info |
| Gene | TFR2 |
| CLNDBN | Hemochromatosis, type 1, modifier of Hemochromatosis type 3 Hemochromatosis type 1 |
| Reversed | 1 |
| HGVS | NC_000007.13:g.100226902C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005714.3, RCV000020537.1, RCV000168108.3, |
[PMID 12150153] Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.
