Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR MCAD deficiency in Denmark. 22542437

2012
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype. 23095120

2012
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312

2005
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. 15171998

2004
dbSNP: rs786204566
rs786204566
ACADM
CT 0.700 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001