Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204642
rs786204642
ACADM
A 0.700 CausalMutation CLINVAR First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 25503862

2015
dbSNP: rs786204642
rs786204642
ACADM
A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. 22796001

2012
dbSNP: rs786204642
rs786204642
ACADM
A 0.700 CausalMutation CLINVAR A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. 19064330

2009
dbSNP: rs786204642
rs786204642
ACADM
A 0.700 CausalMutation CLINVAR Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. 15915086

2005