MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: Combined Oxidative Phosphorylation Deficiency 5 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119478059
rs119478059 		1.000 0.080 3 139350183 missense variant G/A snv 8.4E-05 1.3E-04
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs387906924
rs387906924 		1.000 0.080 3 139350318 missense variant T/C snv
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0