rs387906924, MRPS22

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 5
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
2 1.000 0.080 3 139350318 missense variant T/C snv 0.700 0