i4000422
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 680,910,740 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMaple Syrup Urine Disease Type 1B
- A;GBadMaple Syrup Urine Disease Type 1B carrier
- G;GGoodnormal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BCKDHB SNPs
Genosets
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Notes
related to Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1B rs386834233
A;A
Maple Syrup Urine Disease
A;G
Maple Syrup Urine Disease Type 1B carrier
Source and license
Adapted from i4000422 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.