Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.010 GeneticVariation BEFREE Within the last years, evidence has been presented that MCAD is a multifactorial polygenic determined disease with the KIT(D816V) mutation and its induced functional consequences considered as special case. 26880691

2016
dbSNP: rs121913682
rs121913682
KIT
0.010 GeneticVariation BEFREE Within the last years, evidence has been presented that MCAD is a multifactorial polygenic determined disease with the KIT(D816V) mutation and its induced functional consequences considered as special case. 26880691

2016
dbSNP: rs1430502318
rs1430502318
LRP2
0.010 GeneticVariation BEFREE To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent. 20567907

2010
dbSNP: rs773507991
rs773507991
MCF2L
0.010 GeneticVariation BEFREE To date, more than 67 mutations have been reported to cause MCADD with a single allele, c.985A>G, being the most common in patients of northwestern European descent. 20567907

2010
dbSNP: rs543428644
rs543428644
KCNQ1
0.010 GeneticVariation BEFREE Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. 15466077

2004
dbSNP: rs768714483
rs768714483
VIPR1
0.010 GeneticVariation BEFREE Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. 15466077

2004
dbSNP: rs946110595
rs946110595
KCNH2
0.010 GeneticVariation BEFREE Deficiencies in fatty acid metabolism have been extensively studied in cases of SIDS, and by far the most well-investigated mutation is the A985G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene, which is the most prevalent mutation causing MCAD deficiency. 15466077

2004
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: rs1462472677
rs1462472677
ACADM
G 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
A 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 Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs1553127216
rs1553127216
ACADM
C 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
A 0.700 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016
dbSNP: rs398123072
rs398123072
ACADM
T 0.700 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs398123072
rs398123072
ACADM
T 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs757434857
rs757434857
ACADM
G 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs759158371
rs759158371
ACADM
A 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs760892123
rs760892123
ACADM
C 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs768884003
rs768884003
ACADM
A 0.700 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016
dbSNP: rs768884003
rs768884003
ACADM
A 0.700 GeneticVariation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016
dbSNP: rs773677327
rs773677327
ACADM
G 0.700 GeneticVariation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016
dbSNP: rs773677327
rs773677327
ACADM
G 0.700 CausalMutation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016
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