rs765799472, 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 145639203 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 2 2004 2012
Methylmalonic aciduria cblA type
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
56 1.000 0.080 4 145639203 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 1 2004 2004