rs397514598, PNPT1

N. diseases: 1
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
CUI: C3554129
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
11 1.000 2 55667007 missense variant T/C snv 0.800 1.000 1 2012 2012