Source: CURATED

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: rs782609482
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 0