rs104894556, COX10

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.
Cytochrome-c Oxidase Deficiency
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
44 1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05 0.800 1.000 3 2000 2016
Renal tubular acidosis
CUI: C0001126
Disease: Renal tubular acidosis
3 1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2019 2019