rs137852871

A SNP in the BCKDHA gene on chromosome 19. Its most notable genotype is A;G: Carrier of a maple syrup urine disease mutation

Gene
BCKDHA
Location
Chr 1941,422,643 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a maple syrup urine disease mutationImportant · 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 BCKDHA SNPs

All BCKDHA SNPs

Notes

From SNPedia

Notes

aka c.868G>A (p.Gly290Arg or G290R)

A;G

Unaffected in absence of a second BCKDHA gene mutation

Source and license

Adapted from rs137852871 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.