rs755328329, MCCC1

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 1 deficiency
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
50 1.000 0.120 3 183041719 missense variant T/G snv 4.0E-06 0.700 1.000 11 2001 2016