Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
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: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. 19780764

2009
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. 11673361

2001
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 CausalMutation CLINVAR