Gene: BTD ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1306944669
rs1306944669
BTD
A 0.700 GeneticVariation CLINVAR Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. 29359854

2018
dbSNP: rs397514369
rs397514369
BTD
A 0.700 GeneticVariation CLINVAR Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. 29353266

2018
dbSNP: rs397514425
rs397514425
BTD
CT 0.700 CausalMutation CLINVAR Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. 29359854

2018
dbSNP: rs119103232
rs119103232
BTD
A 0.700 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs119103232
rs119103232
BTD
A 0.700 CausalMutation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs190386869
rs190386869
BTD
T 0.700 CausalMutation CLINVAR Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. 27207447

2017
dbSNP: rs28934601
rs28934601
BTD
G 0.700 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs28934601
rs28934601
BTD
G 0.700 CausalMutation 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 Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs397507175
rs397507175
BTD
A 0.700 GeneticVariation CLINVAR Neonatal screening for biotinidase deficiency: A 30-year single center experience. 28971021

2017
dbSNP: rs397514348
rs397514348
BTD
G 0.700 GeneticVariation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs397514375
rs397514375
BTD
A 0.700 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs397514395
rs397514395
BTD
G 0.700 CausalMutation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs397514412
rs397514412
BTD
C 0.700 GeneticVariation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs587783005
rs587783005
BTD
T 0.700 GeneticVariation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs587783005
rs587783005
BTD
T 0.700 CausalMutation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs1004027979
rs1004027979
BTD
GTC 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs1024847163
rs1024847163
BTD
G 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs1050035768
rs1050035768
BTD
T 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs1157567876
rs1157567876
BTD
C 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs1190721481
rs1190721481
BTD
A 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs138818907
rs138818907
BTD
T 0.700 GeneticVariation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs1404904752
rs1404904752
BTD
T 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs146136265
rs146136265
BTD
A 0.700 GeneticVariation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
dbSNP: rs146136265
rs146136265
BTD
A 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016