Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1050514843
rs1050514843
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516440
rs1057516440
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		A 0.700 GeneticVariation CLINVAR Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase. 15059618

2004
dbSNP: rs1057516440
rs1057516440
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516440
rs1057516440
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517114
rs1057517114
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs143058480
rs143058480
BTD ; HACL1
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		T 0.700 GeneticVariation CLINVAR