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: rs557671802
rs557671802 		1.000 13 110677007 missense variant G/A snv 2.5E-05 7.0E-06
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.800 1.000 2 2014 2015
dbSNP: rs727505361
rs727505361 		1.000 13 110683051 missense variant C/T snv 1.3E-05 1.4E-05
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 0
dbSNP: rs753472937
rs753472937 		1.000 13 110683055 inframe deletion CTC/- del 7.0E-06
CUI: C4225251
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 		0.700 0