i3002808

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

Gene
BCKDHB
Location
Chr 680,878,662 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBadMaple Syrup Urine Disease Type 1BVery important · 5.0
  2. C;GBadMaple Syrup Urine Disease Type 1B carrierVery important · 4.0
  3. G;GGoodnormalTypical · 0.0

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

Conditions, medicines and genes

Other BCKDHB SNPs

All BCKDHB SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Notes

also known as rs79761867 (and formerly as rs28934895) but both share the (G;G) as normal plus strand orientation Maple Syrup Urine Disease, Type 1B

C;C

Maple Syrup Urine Disease Type 1B

C;G

Maple Syrup Urine Disease Type 1B carrier

Source and license

Adapted from i3002808 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.