rs121918241, MMACHC

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 acidemia with homocystinuria
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
58 0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-05 0.700 1.000 2 2006 2009
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
169 0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-05 0.700 0