rs796051993, MMAA

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 4 145646013 frameshift variant CTGA/- delins 0.700 1.000 2 2004 2012
Methylmalonic aciduria cblA type
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
56 1.000 0.080 4 145646013 frameshift variant CTGA/- delins 0.700 0