rs796052000
A SNP in the MMACHC gene on chromosome 1. Its most notable genotype is -;AACC: Carrier of a methylmalonic aciduria type cblC mutation
- Gene
- MMACHC
- Location
- Chr 145,508,263 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AACCMost notableBadCarrier of a methylmalonic aciduria type cblC mutation
- AACC;AACCGoodcommon in clinvar
- CCAA;CCAAGoodcommon in clinvar
- I;IGoodcommon genotype
On SNPedia: (-;AACC), (AACC;AACC), (CCAA;CCAA), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MMACHC SNPs
- rs121918240C;Cmethylmalonic aciduria, cblC typeVery important
- rs121918241T;Tmethylmalonic aciduria, cblC typeVery important
- rs121918242T;Tmethylmalonic aciduria, cblC typeVery important
- rs121918243A;Amethylmalonic aciduria, cblC typeVery important
- rs370596113T;Tmethylmalonic aciduria, cblC typeVery important
- rs398124292A;Amethylmalonic aciduria, cblC typeVery important
- rs398124293-;-methylmalonic aciduria, cblC typeVery important
- rs398124295A;Amethylmalonic aciduria, cblC typeVery important
Notes
From SNPedia
Notes
-;AACC
Unaffected in absence of a second MMACHC gene mutation
Source and license
Adapted from rs796052000 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.