rs72558449
A SNP in the OTC gene on chromosome X. Its most notable genotype is C;C: Ornithine Transcarbamylase Deficiency
- Gene
- OTC
- Location
- Chr X38,408,961 (GRCh38)
- Highest magnitude
- 8.2Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadOrnithine Transcarbamylase Deficiency
- C;TBadCarrier of an ornithine carbamoyltransferase mutation
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). 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
C;T
Usually unaffected in absence of a second OTC gene mutation; X-linked so primary risk is to sons. Note though that ~15% of carrier females become symptomatic during their lifetime.
Source and license
Adapted from rs72558449 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.