rs119103212, MCCC1

N. diseases: 2
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 0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05 0.800 1.000 3 2001 2015
Methylcrotonyl-CoA carboxylase deficiency
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
1 0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05 0.700 1.000 2 2001 2015