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: rs1352878283
rs1352878283
SCO2 ; NCAPH2
1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2016 2016
dbSNP: rs759452074
rs759452074
SCO2 ; NCAPH2
0.925 0.200 22 50523835 missense variant C/A;T snv 8.0E-06; 3.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2016 2016