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: rs587780062
rs587780062
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.710 1.000 1 2016 2016