Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375712490
rs375712490
BTD
T 0.700 GeneticVariation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs375712490
rs375712490
BTD
T 0.700 GeneticVariation CLINVAR The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). 20083419

2010
dbSNP: rs375712490
rs375712490
BTD
T 0.700 GeneticVariation CLINVAR High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. 20549359

2010
dbSNP: rs375712490
rs375712490
BTD
T 0.700 GeneticVariation CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005
dbSNP: rs375712490
rs375712490
BTD
T 0.700 CausalMutation CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005