Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762114560
rs762114560
ACADM
T 0.700 GeneticVariation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012
dbSNP: rs762114560
rs762114560
ACADM
T 0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs762114560
rs762114560
ACADM
T 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: rs762114560
rs762114560
ACADM
T 0.700 GeneticVariation CLINVAR Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. 18450854

2008
dbSNP: rs762114560
rs762114560
ACADM
T 0.700 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 16291504

2006
dbSNP: rs762114560
rs762114560
ACADM
T 0.700 CausalMutation CLINVAR