rs398123138
A SNP in the BTD gene on chromosome 3. Its most notable genotype is -;GGATG: Carrier of a biotinidase deficiency mutation
- Gene
- BTD
- Location
- Chr 315,645,364 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;GGATGMost notableBadCarrier of a biotinidase deficiency mutation
- GGATG;GGATGGoodcommon in clinvar
- GGGAT;GGGATGoodcommon in clinvar
- I;IGoodcommon genotype
On SNPedia: (-;GGATG), (GGATG;GGATG), (GGGAT;GGGAT), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other BTD SNPs
- rs13078881C;CBiotinidase deficiency; note ability to treat & variable penetranceVery important
- rs28934601A;GCarrier of a biotinidase deficiency mutationImportant
- rs35145938A;CCarrier of a biotinidase deficiency mutationImportant
- rs80338684GCGGCTG;TCCCarrier of a biotinidase deficiency mutationImportant
- rs80338685A;CCarrier of a biotinidase deficiency mutationImportant
- rs80338686C;TCarrier of a biotinidase deficiency mutationImportant
- rs104893687C;TCarrier of a biotinidase deficiency mutationImportant
- rs104893688C;TCarrier of a biotinidase deficiency mutationImportant
Notes
From SNPedia
Notes
-;GGATG
Unaffected in absence of a second BTD gene mutation
Source and license
Adapted from rs398123138 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.