Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778906552
rs778906552
ACADM
A 0.700 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 22848008

2012
dbSNP: rs778906552
rs778906552
ACADM
A 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: rs778906552
rs778906552
ACADM
A 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: rs778906552
rs778906552
ACADM
A 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: rs778906552
rs778906552
ACADM
A 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: rs778906552
rs778906552
ACADM
A 0.700 GeneticVariation CLINVAR Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. 18241067

2008