Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514357
rs397514357
BTD
A 0.700 GeneticVariation CLINVAR Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 26589311

2016
dbSNP: rs397514357
rs397514357
BTD
A 0.700 GeneticVariation CLINVAR Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 26361991

2015
dbSNP: rs397514357
rs397514357
BTD
A 0.700 GeneticVariation CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795

2010
dbSNP: rs397514357
rs397514357
BTD
A 0.700 GeneticVariation CLINVAR High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. 19757147

2009
dbSNP: rs397514357
rs397514357
BTD
A 0.700 CausalMutation CLINVAR High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. 19757147

2009