rs137852870

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

Gene
BCKDHA
Location
Chr 1941,424,582 (GRCh38)
Highest magnitude
8.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadMaple Syrup Urine Disease likelyVery important · 8.0
  2. A;TBadCarrier for a maple syrup urine disease mutationImportant · 3.0
  3. T;TGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;A), (A;T), (T;T). 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

rs137852870, also known as c.1312T>A, p.Tyr438Asn and Y438N, represents a rare variant in the BCKDHA gene on chromosome 19. The rs137852870(A) variant, when inherited recessively, is considered pathogenic for Maple Syrup Urine Disease. This variant is considered a founder mutation among the Old Order Mennonites of southeastern Pennsylvania. 23andMe name: i5004463

A;A

see discussion at rs137852870

A;T

Unaffected in absence of a second mutation in the BCKDHA gene; see discussion at rs137852870.

Source and license

Adapted from rs137852870 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.