Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 ×
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: rs1131692037
rs1131692037 		0.925 0.120 16 1773083 stop gained C/A;T snv
CUI: C4540029
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		0.800 1.000 1 2017 2017
dbSNP: rs763672163
rs763672163 		1.000 16 1773026 stop gained G/A;T snv 4.4E-04
CUI: C4540029
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		0.700 1.000 1 2017 2017
dbSNP: rs1161932777
rs1161932777 		0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06
CUI: C4540029
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		0.700 0
dbSNP: rs563189672
rs563189672 		1.000 16 1772656 non coding transcript exon variant C/T snv 8.4E-06 1.5E-04
CUI: C4540029
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 		0.700 0