rs121964992

A SNP in the DLD gene on chromosome 7. Its most notable genotype is A;G: Carrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)

Gene
DLD
Location
Chr 7107,917,349 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)Important · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other DLD SNPs

All DLD SNPs

Notes

From SNPedia

Notes

aka c.1123G>A (p.Glu375Lys or E375K)

A;G

Unaffected in absence of a second DLD gene mutation

Source and license

Adapted from rs121964992 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.