MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×
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: rs1057517552
rs1057517552 		1.000 0.160 2 47803459 frameshift variant GTCCTATG/- delins
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0