Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514367
rs397514367
BTD
T 0.700 GeneticVariation CLINVAR Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. 26334177

2016
dbSNP: rs397514367
rs397514367
BTD
T 0.700 GeneticVariation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs397514367
rs397514367
BTD
T 0.700 GeneticVariation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
dbSNP: rs397514367
rs397514367
BTD
T 0.700 CausalMutation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
dbSNP: rs397514367
rs397514367
BTD
T 0.700 GeneticVariation CLINVAR Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. 10400129

1999
dbSNP: rs397514367
rs397514367
BTD
T 0.700 CausalMutation CLINVAR Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. 10400129

1999