Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746136472
rs746136472
ACADM
C 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: rs746136472
rs746136472
ACADM
C 0.700 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010
dbSNP: rs746136472
rs746136472
ACADM
C 0.700 GeneticVariation CLINVAR Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. 18450854

2008
dbSNP: rs746136472
rs746136472
ACADM
C 0.700 GeneticVariation CLINVAR Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. 15171998

2004