rs374698153, 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 55647357 missense variant G/C snv 3.2E-05 7.7E-05 0.700 1.000 3 2012 2016