rs757052602, MCCC2

N. diseases: 1
Source: INFERRED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
3-methylcrotonyl CoA carboxylase 2 deficiency
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
1.000 0.120 5 71641068 missense variant A/T snv 3.6E-04 1.1E-04 0.800 1.000 2 2011 2015