Links to SNPedia
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
There are no PLoS-results yet. Please come back again later.
Publications on this SNP on Mendeley
There are no Mendeley results yet. Please come back again later.
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
BTD |
Low clinical importance, pathogenic |
Biotinidase Deficiency |
This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. |
recessive |
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: