Source: UNIPROT

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