Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1004027979
rs1004027979
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		GTC 0.700 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016