Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk. 28018443

2016
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. 22030835

2012
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. 22150417

2012
dbSNP: rs119103226
rs119103226
MCCC2
T 0.800 GeneticVariation CLINVAR Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484

2007