Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516278
rs1057516278
ACADM
TG 0.700 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs1057516278
rs1057516278
ACADM
TG 0.700 CausalMutation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs1057516463
rs1057516463
ACADM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516480
rs1057516480
ACADM
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516485
rs1057516485
ACADM
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516564
rs1057516564
ACADM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516778
rs1057516778
ACADM ; SLC44A5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516801
rs1057516801
ACADM
T 0.700 GeneticVariation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012
dbSNP: rs1057516983
rs1057516983
ACADM
A 0.700 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs1057516983
rs1057516983
ACADM
A 0.700 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001
dbSNP: rs1057516983
rs1057516983
ACADM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517103
rs1057517103
ACADM
A 0.700 GeneticVariation CLINVAR The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? 9158144

1997
dbSNP: rs1057517179
rs1057517179
ACADM
C 0.700 GeneticVariation CLINVAR

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 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 Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. 15171998

2004
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 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 Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613

2010
dbSNP: rs1057517411
rs1057517411
ACADM
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518677
rs1057518677
ACADM
G 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: rs1057518677
rs1057518677
ACADM
G 0.700 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. 16121256

2005
dbSNP: rs1057518677
rs1057518677
ACADM
G 0.700 CausalMutation CLINVAR

dbSNP: rs113887538
rs113887538
ACADM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434274
rs121434274
ACADM
A 0.800 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014