rs121964990

A SNP in the DLD gene on chromosome 7. Its most notable genotype is T;T: Dihydrolipooamide Dehydrogenase Deficiency

Gene
DLD
Location
Chr 7107,915,506 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TBadCarrier of a dihydrolipoamide dehydrogenase deficiency mutation (also known as Maple Syrup Urine disease type III)Important · 3.0
  3. T;TMost notableBadDihydrolipooamide Dehydrogenase DeficiencyVery important · 5.0

On SNPedia: (G;G), (G;T), (T;T). 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.685G>T (p.Gly229Cys or G229C) 23andMe name: i5003700

G;T

Unaffected in absence of a second DLD gene mutation

Source and license

Adapted from rs121964990 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.