Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204424
rs786204424
ACADM
T 0.700 CausalMutation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs786204424
rs786204424
ACADM
T 0.700 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs786204424
rs786204424
ACADM
T 0.700 GeneticVariation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs786204424
rs786204424
ACADM
T 0.700 CausalMutation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010
dbSNP: rs786204424
rs786204424
ACADM
T 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: rs786204424
rs786204424
ACADM
T 0.700 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. 16121256

2005
dbSNP: rs786204424
rs786204424
ACADM
T 0.700 GeneticVariation CLINVAR Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312

2005