rs397509363
A SNP in the MMADHC gene on chromosome 2. Its most notable genotype is -;T: Carrier of a methylmalonic aciduria type cblD mutation
- Gene
- MMADHC
- Location
- Chr 2149,576,495 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;TMost notableBadCarrier of a methylmalonic aciduria type cblD mutation
SNPedia records rs397509363 on the minus strand: (-;-), (-;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MMADHC SNPs
- rs118204044A;GCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs118204046C;TCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs118204047A;GCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs118204048A;GCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs397509362-;CTAGCAGAACCTTTATCACarrier of a methylmalonic aciduria type cblD mutationImportant
- rs397509364-;GAGTCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs864309740-;CCarrier of a methylmalonic aciduria type cblD mutationImportant
- rs864309741-;CCarrier of a methylmalonic aciduria type cblD mutationImportant
Notes
From SNPedia
Notes
-;T
Unaffected in absence of a second MMADHC gene mutation
Source and license
Adapted from rs397509363 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.