rs80338729

A SNP in the SLC25A13 gene on chromosome 7. Its most notable genotype is A;A: Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset

Gene
SLC25A13
Location
Chr 796,121,683 (GRCh38)
Highest magnitude
5.7Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a citrullinemia/citrin deficiency alleleImportant · 3.0
  3. A;AMost notableBadCitrullinemia type II/citrin deficiency; neonatal and/or adult-onsetVery important · 5.7

SNPedia records rs80338729 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.

Other SLC25A13 SNPs

All SLC25A13 SNPs

Notes

From SNPedia

Notes

A;G

Unaffected in absence of a second SLC25A13 mutation; see ClinVar sidebar on main SNP page.

A;A

Pathogenic in ClinVar;see sidebar on main SNP page.

Source and license

Adapted from rs80338729 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.