Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 CausalMutation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 GeneticVariation CLINVAR Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. 22796001

2012
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 CausalMutation CLINVAR We report the identification of the first Korean patient with MCAD deficiency, caused by a novel missense mutation in ACADM, 843A>T (R281S), and a 4-bp deletion, c.449_452delCTGA. 15915086

2005
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 GeneticVariation CLINVAR We report the identification of the first Korean patient with MCAD deficiency, caused by a novel missense mutation in ACADM, 843A>T (R281S), and a 4-bp deletion, c.449_452delCTGA. 15915086

2005