rs372174278, GTPBP3

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 23
CUI: C4015447
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
12 1.000 19 17339589 missense variant G/C;T snv 1.2E-04; 4.3E-06 0.700 0