rs398123489

A SNP in the BCKDHA gene on chromosome 19. Its most notable genotype is -;-: Maple Syrup Urine disease

Gene
BCKDHA
Location
Chr 1941,410,645 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Most notableBadMaple Syrup Urine diseaseVery important · 6.0
  2. -;CBadcarrier of one Maple Syrup Urine Disease alleleImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other BCKDHA SNPs

All BCKDHA SNPs

Notes

From SNPedia

Notes

rs398123489, also known as c.117delC and p.Arg40Glyfs, is a mutation in the BCKDHA gene on chromosome 19. The rare rs398123489(-) allele, representing the deletion of the C normally at this position, is considered causative for Maple Syrup Urine Disease when inherited in two copies.

-;-

see discussion at rs398123489

-;C

see discussion at rs398123489

Source and license

Adapted from rs398123489 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.