Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario. 21083904

2010
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010