Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553127216
rs1553127216
ACADM
C 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs1553127216
rs1553127216
ACADM
C 0.700 CausalMutation CLINVAR Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency. 21239873

2011
dbSNP: rs1553127216
rs1553127216
ACADM
C 0.700 CausalMutation CLINVAR Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency. 18075239

2007