Disease: Colorectal cancer, hereditary nonpolyposis, type 1 ×
Source: ALL
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: rs63750250
rs63750250 		0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2005 2014
dbSNP: rs587779333
rs587779333 		0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2013
dbSNP: rs1562677687
rs1562677687 		1.000 0.160 7 5999131 frameshift variant -/GATA delins
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0