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: rs113994093
rs113994093
1.000 0.120 15 89330241 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 1 2009 2009