Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201375579
rs201375579
ACADM
G 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
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 CausalMutation CLINVAR Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. 19224950

2009
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 GeneticVariation CLINVAR Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. 19224950

2009
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 CausalMutation CLINVAR Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. 19780764

2009
dbSNP: rs201375579
rs201375579
ACADM
G 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: rs201375579
rs201375579
ACADM
G 0.700 CausalMutation CLINVAR MCAD deficiency in Denmark. 22542437

2012
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 GeneticVariation CLINVAR MCAD deficiency in Denmark. 22542437

2012
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 GeneticVariation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
dbSNP: rs201375579
rs201375579
ACADM
G 0.700 CausalMutation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014