Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 ×
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: rs587777583
rs587777583 		1.000 6 30918886 missense variant G/A snv
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs587777584
rs587777584 		1.000 6 30921976 missense variant C/A snv 4.1E-06
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs587777585
rs587777585 		0.882 6 30918851 missense variant C/G;T snv 2.4E-05
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs139515727
rs139515727 		1.000 6 30915985 missense variant C/T snv 3.2E-05 1.0E-04
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0
dbSNP: rs1554268077
rs1554268077 		1.000 6 30920731 inframe deletion GGG/- delins
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0
dbSNP: rs775439829
rs775439829 		1.000 6 30920670 missense variant G/A;C snv 7.0E-06
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0