Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757052602
rs757052602
MCCC2
T 0.800 CausalMutation CLINVAR Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. 25356967

2015
dbSNP: rs757052602
rs757052602
MCCC2
T 0.800 CausalMutation CLINVAR Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. 21071250

2011