Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 28581210

2017
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 24294134

2013
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. 21483992

2011
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613

2010
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. 15171998

2004