rs386834233

A SNP in the BCKDHB gene on chromosome 6. Its most notable genotype is A;A: Maple Syrup Urine Disease Type 1B

Gene
BCKDHB
Location
Chr 680,201,023 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadMaple Syrup Urine Disease Type 1BVery important · 5.0
  2. A;GBadMaple Syrup Urine Disease Type 1B carrierImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Other BCKDHB SNPs

All BCKDHB SNPs

Notes

From SNPedia

Notes

aka c.832G>A (p.Gly278Ser)

A;G

Unaffected in absence of a second BCKDHB gene mutation

Source and license

Adapted from rs386834233 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.