Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908577
rs121908577
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2007 2015