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: rs137852767
rs137852767
0.925 0.120 5 251011 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 3 1995 2015