rs11568350
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs11568350(G;T) |
| Make rs11568350(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 189565370 |
| Gene | SLC40A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11568350 |
| dbSNP (classic) | rs11568350 |
| ClinGen | rs11568350 |
| ebi | rs11568350 |
| HLI | rs11568350 |
| Exac | rs11568350 |
| Gnomad | rs11568350 |
| Varsome | rs11568350 |
| LitVar | rs11568350 |
| Map | rs11568350 |
| PheGenI | rs11568350 |
| Biobank | rs11568350 |
| 1000 genomes | rs11568350 |
| hgdp | rs11568350 |
| ensembl | rs11568350 |
| geneview | rs11568350 |
| scholar | rs11568350 |
| rs11568350 | |
| pharmgkb | rs11568350 |
| gwascentral | rs11568350 |
| openSNP | rs11568350 |
| 23andMe | rs11568350 |
| SNPshot | rs11568350 |
| SNPdbe | rs11568350 |
| MSV3d | rs11568350 |
| GWAS Ctlg | rs11568350 |
| GMAF | 0.009642 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
Ferroportin is the only currently known cellular iron exporter. It is a transmembrane protein responsible for iron export from enterocytes, macrophages, and many other cell types.
rs11568350: Mutation c.744G → T mutation in exon 6 of the SLC40A1 gene, resulting in Q248H amino acid substitution in the ferroportin-1 protein. The more common rs11568350(G) allele encodes the Q (glutamine) at this codon, while the less common rs11568350(T) encodes the H (histidine). The Q248H polymorphism is found primarily in populations of African origin [PMID 21231898].
In one study of 200 HIV-positive women in Rwanda, rs11568350(G;T) heterozygotes (i.e. Q248H carriers) had significantly higher values for serum ferritin (p=0.001) and significantly lower values for serum hepcidin (p=0.001) and transferrin (p=0.01) compared to rs11568350(G;G) homozygotes. They may also have been prone to higher prevalence of some opportunistic infections. [PMID 22249207]
| ClinVar | |
|---|---|
| Risk | rs11568350(T;T) |
| Alt | rs11568350(T;T) |
| Reference | Rs11568350(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Hereditary hemochromatosis Hemochromatosis type 4 |
| Variation | info |
| Gene | SLC40A1 |
| CLNDBN | Hereditary hemochromatosis Hemochromatosis type 4 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.190430096C>A |
| CLNSRC | |
| CLNACC | RCV000403412.1, RCV000467098.1, |
