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: rs397514662
rs397514662
COX15 ; CUTC
0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 1.000 2 2004 2016