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: rs1135402725
rs1135402725
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
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 2019 2019