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: rs397514615
rs397514615
0.882 0.120 2 227330777 stop gained C/T snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0