Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894630
rs104894630
SCO1
0.882 0.120 17 10692805 missense variant G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 4 2000 2009
dbSNP: rs587777220
rs587777220
SCO1
0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.710 1.000 0 2013 2013
dbSNP: rs2520166
rs2520166
SCO1 ; ADPRM
17 10698673 intron variant T/C snv 5.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs587776629
rs587776629
SCO1 ; ADPRM
1.000 0.080 17 10695740 coding sequence variant CT/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0