rs121908012

A SNP in the UROS gene on chromosome 10. Its most notable genotype is G;G: Congenital erythropoietic porphyria (predicted)

Gene
UROS
Location
Chr 10125,815,061 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadCongenital erythropoietic porphyria (predicted)Very important · 7.0
  2. A;GBadCarrier of a congenital erythropoietic porphyria mutationImportant · 3.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs121908012 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other UROS SNPs

All UROS SNPs

Notes

From SNPedia

Notes

aka c.217T>C, p.Cys73Arg and C73R This recessively inherited mutation in the UROS gene, found in about one-third of all cases of congenital erythropoietic porphyria, is considered the most frequent.

G;G

see links and text via main rs-page

A;G

Unaffected in absence of a second UROS gene mutation; see links via main rs-page.

Source and license

Adapted from rs121908012 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.