rs118204044, MMADHC

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.
Methylmalonic Aciduria and Homocystinuria, CblD Type
CUI: C1848552
Disease: Methylmalonic Aciduria and Homocystinuria, CblD Type
14 0.925 0.080 2 149570089 missense variant A/G snv 2.4E-05 0.700 1.000 3 2008 2015
Homocystinuria, CblD Type, Variant 1
CUI: C1848553
Disease: Homocystinuria, CblD Type, Variant 1
3 0.925 0.080 2 149570089 missense variant A/G snv 2.4E-05 0.700 0