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: rs398122806
rs398122806
SURF1
0.925 0.120 9 133352518 missense variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 7 1998 2012