rs763935916, 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 109568864 splice acceptor variant C/A snv 4.0E-05 1.4E-05 0.700 1.000 3 2002 2016
Methylmalonic aciduria cblB type
CUI: C1855102
Disease: Methylmalonic aciduria cblB type
27 1.000 0.080 12 109568864 splice acceptor variant C/A snv 4.0E-05 1.4E-05 0.700 1.000 2 2002 2014