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: rs28939714
rs28939714
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013