Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 ×
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: rs869025313
rs869025313 		1.000 3 66263369 missense variant T/G snv
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs869025314
rs869025314 		1.000 3 66262055 missense variant C/T snv 7.0E-06
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs869025315
rs869025315 		1.000 3 66369505 missense variant C/T snv
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs781798317
rs781798317 		1.000 3 66221128 splice donor variant G/A snv 7.6E-06 7.0E-06
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.700 0