Source: CLINVAR

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: rs118203892
rs118203892
COX1 ; COX2 ; ND2 ; TRNY
1.000 0.240 MT 5885 non coding transcript exon variant T/- delins
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.700 0