Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906297
rs387906297
ACADM
C 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: rs387906297
rs387906297
ACADM
C 0.700 CausalMutation CLINVAR Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. 1729890

1992
dbSNP: rs387906297
rs387906297
ACADM
C 0.700 CausalMutation CLINVAR Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death. 1356169

1992