rs72552297
A SNP in the OTC gene on chromosome X. Its most notable genotype is -;AACA: Carrier of an ornithine transcarbamylase deficiency (OTD) mutation
- Gene
- OTC
- Location
- Chr X38,352,724 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-GoodGood if from 23andMe; bad otherwise (see explanation)
- -;AACAMost notableBadCarrier of an ornithine transcarbamylase deficiency (OTD) mutation
- AAAC;AAACGoodcommon in clinvar
- AACA;AACAGoodcommon in clinvar
- I;IGoodcommon genotype
On SNPedia: (-;-), (-;AACA), (AAAC;AAAC), (AACA;AACA), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other OTC SNPs
- rs1800324C;COrnithine Transcarbamylase DeficiencyVery important
- rs66469337G;GOrnithine Transcarbamylase DeficiencyVery important
- rs66521141A;AOrnithine Transcarbamylase DeficiencyVery important
- rs66626662A;AOrnithine Transcarbamylase DeficiencyVery important
- rs66656800A;AOrnithine Transcarbamylase DeficiencyVery important
- rs67414444A;AOrnithine Transcarbamylase DeficiencyVery important
- rs68026851A;AOrnithine Transcarbamylase DeficiencyVery important
- rs68058881A;AOrnithine Transcarbamylase DeficiencyVery important
Notes
From SNPedia
Notes
aka c.28_31delAACA (p.Asn10Metfs)
-;-
This would normally represent a bad, double-deletion genotype, but 100% normal 23andMe users are commonly told they are this genotype.
-;AACA
Unaffected in absence of a second OTC gene mutation
Source and license
Adapted from rs72552297 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.