Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625

2015
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. 25144890

2015
dbSNP: rs397514348
rs397514348
BTD
G 0.700 CausalMutation CLINVAR Seventeen novel mutations that cause profound biotinidase deficiency. 12359137

2003
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Seventeen novel mutations that cause profound biotinidase deficiency. 12359137

2003