Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 CausalMutation CLINVAR Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 25174816

2014
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 GeneticVariation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 CausalMutation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 CausalMutation CLINVAR Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. 17185019

2007
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 CausalMutation CLINVAR Seventeen novel mutations that cause profound biotinidase deficiency. 12359137

2003
dbSNP: rs1553653680
rs1553653680
BTD
A 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
dbSNP: rs1553653680
rs1553653680
BTD
A 0.700 CausalMutation CLINVAR Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. 9396567

1997