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: rs1553414395
rs1553414395
0.925 0.160 2 47801001 stop gained C/A;G;T snv
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0