rs277995, MCCC2

N. diseases: 1
Source: ALL
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
49 1.000 0.120 5 71626656 missense variant G/C snv 2.8E-05 4.9E-05 0.700 1.000 11 2001 2016