rs369296618, MMAB

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
CUI: C0268583
Disease: Methylmalonic acidemia
35 1.000 0.080 12 109557081 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 3 2006 2012
Methylmalonic aciduria cblB type
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
27 1.000 0.080 12 109557081 stop gained G/A snv 3.2E-05 3.5E-05 0.700 1.000 2 2006 2011