rs368420430
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs368420430(A;A) |
| Make rs368420430(A;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 189564177 |
| Gene | SLC40A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368420430 |
| dbSNP (classic) | rs368420430 |
| ClinGen | rs368420430 |
| ebi | rs368420430 |
| HLI | rs368420430 |
| Exac | rs368420430 |
| Gnomad | rs368420430 |
| Varsome | rs368420430 |
| LitVar | rs368420430 |
| Map | rs368420430 |
| PheGenI | rs368420430 |
| Biobank | rs368420430 |
| 1000 genomes | rs368420430 |
| hgdp | rs368420430 |
| ensembl | rs368420430 |
| geneview | rs368420430 |
| scholar | rs368420430 |
| rs368420430 | |
| pharmgkb | rs368420430 |
| gwascentral | rs368420430 |
| openSNP | rs368420430 |
| 23andMe | rs368420430 |
| SNPshot | rs368420430 |
| SNPdbe | rs368420430 |
| MSV3d | rs368420430 |
| GWAS Ctlg | rs368420430 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368420430(A;A) rs368420430(G;G) |
| Alt | rs368420430(A;A) rs368420430(G;G) |
| Reference | Rs368420430(T;T) |
| Significance | Pathogenic |
| Disease | Hemochromatosis type 4 |
| Variation | info |
| Gene | SLC40A1 |
| CLNDBN | Hemochromatosis type 4 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.190428903T>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000190909.1, |
