rs80338885

A SNP in the TFR2 gene on chromosome 7. Its most notable genotype is C;T: Likely miscall in DNA chip data; see text of main rs-page

Gene
TFR2
Location
Chr 7100,628,294 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableNot ratedLikely miscall in DNA chip data; see text of main rs-pageMinor · 1.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs80338885 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other TFR2 SNPs

All TFR2 SNPs

Notes

From SNPedia

Show notes, about 130 words

aka c.1403G>A (p.Arg468His or R468H) Considered to be a variant of uncertain significance by the (only) submitter to ClinVar; presumably a recessive mutation. A survey of non-HFE HH mutations in large-scale sequencing databases concludes that they are likely to be very rare (with heterozygote carrier frequencies of perhaps 1 in 1000 and homozygote frequencies less than 1 in a million for most). Of note, rs80338885 was listed as one of the 49 TFR2 gene variants considered pathogenic in this survey but it was not observed in any sequence; this implies that the ~1 in 500 frequency heterozygote frequency observed in DNA chip data among Promethease users is too high to be credible. A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.

Source and license

Adapted from rs80338885 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.