rs11568350

A SNP in the SLC40A1 gene on chromosome 2. Its most notable genotype is C;C: common in complete genomics

Gene
SLC40A1
Location
Chr 2189,565,370 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in complete genomicsTypical · 0.096% of people

SNPedia records rs11568350 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 8 HapMap populations.

  • AverageC;C 96%
  • European ancestry (Utah)C;C 100%
  • Han Chinese (Beijing)C;C 100%
  • Japanese (Tokyo)C;C 100%
  • Yoruba (Nigeria)C;C 92%
  • African ancestry (Southwest US)C;C 84%
  • Luhya (Kenya)C;C 94%
  • Mexican ancestry (Los Angeles)C;C 98%
  • Maasai (Kenya)C;C 98%

Notes

From SNPedia

Show notes, about 150 words

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 &#8594; 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 . 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.

Source and license

Adapted from rs11568350 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.