rs1800730
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 2.1 | carrier for a mild form of hemochromatosis |
| (T;T) | 2.6 | affected by a mild form of hemochromatosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 26090957 |
| Gene | HFE, LOC108783645 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800730 |
| dbSNP (classic) | rs1800730 |
| ClinGen | rs1800730 |
| ebi | rs1800730 |
| HLI | rs1800730 |
| Exac | rs1800730 |
| Gnomad | rs1800730 |
| Varsome | rs1800730 |
| LitVar | rs1800730 |
| Map | rs1800730 |
| PheGenI | rs1800730 |
| Biobank | rs1800730 |
| 1000 genomes | rs1800730 |
| hgdp | rs1800730 |
| ensembl | rs1800730 |
| geneview | rs1800730 |
| scholar | rs1800730 |
| rs1800730 | |
| pharmgkb | rs1800730 |
| gwascentral | rs1800730 |
| openSNP | rs1800730 |
| 23andMe | rs1800730 |
| SNPshot | rs1800730 |
| SNPdbe | rs1800730 |
| MSV3d | rs1800730 |
| GWAS Ctlg | rs1800730 |
| Merged from | Rs28934888 |
| GMAF | 0.007346 |
| Max Magnitude | 2.6 |
rs1800730, also known as S65C or Ser65Cys, is associated with a mild form of hemochromatosis [PMID 10194428]; in SNPedia, see also i3002468.
| ClinVar | |
|---|---|
| Risk | Rs1800730(T;T) |
| Alt | Rs1800730(T;T) |
| Reference | Rs1800730(A;A) |
| Significance | Other |
| Disease | Hemochromatosis type 1 Hereditary hemochromatosis |
| Variation | info |
| Gene | HFE |
| CLNDBN | Hemochromatosis type 1 Hereditary hemochromatosis |
| Reversed | 0 |
| HGVS | NC_000006.11:g.26091185A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000028.7, RCV000290779.1, |
[PMID 23418762] Hereditary hemochromatosis
[PMID 23792061] Meta-analyses of HFE variants in coronary heart disease
