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: rs2020912
rs2020912 		0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
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 1.000 12 1997 2017
dbSNP: rs35552856
rs35552856 		1.000 0.160 2 47800166 missense variant A/C;G snv 4.0E-06; 1.2E-05
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 1.000 12 1997 2017
dbSNP: rs63749973
rs63749973 		0.925 0.160 2 47799679 stop gained G/A;T snv 2.4E-04 2.8E-05
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 1.000 12 1997 2017
dbSNP: rs63750143
rs63750143 		1.000 0.160 2 47791049 missense variant G/A;T snv
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 1.000 12 1997 2017
dbSNP: rs63750370
rs63750370 		1.000 0.160 2 47806231 missense variant C/A;T snv 4.0E-06; 7.6E-05
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 1.000 12 1997 2017
dbSNP: rs267608122
rs267608122 		0.925 0.160 2 47806651 missense variant G/A;C snv
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 1.000 10 1994 2016
dbSNP: rs201735525
rs201735525 		1.000 0.160 2 47799813 missense variant G/A;C;T snv 8.0E-06
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 1.000 9 1997 2012
dbSNP: rs2020908
rs2020908 		1.000 0.160 2 47799169 missense variant C/G snv 5.4E-03 5.5E-03
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 1.000 9 1997 2012
dbSNP: rs267608026
rs267608026 		1.000 0.160 2 47783306 missense variant G/T snv 1.4E-04 2.2E-04
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 1.000 9 1997 2012
dbSNP: rs267608054
rs267608054 		1.000 0.160 2 47801059 missense variant G/C;T snv
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 1.000 9 1997 2012
dbSNP: rs267608140
rs267608140 		0.925 0.160 2 47806838 missense variant T/A;C snv
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 1.000 9 1997 2012
dbSNP: rs587779323
rs587779323 		1.000 0.160 2 47798960 missense variant C/T snv
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 1.000 9 1997 2012
dbSNP: rs63750138
rs63750138 		0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06
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 1.000 9 1997 2012
dbSNP: rs63750252
rs63750252 		1.000 0.160 2 47804959 missense variant A/G;T snv 1.0E-03
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 1.000 9 1997 2012
dbSNP: rs63750253
rs63750253 		0.925 0.160 2 47803531 missense variant G/A snv 4.8E-05 2.8E-05
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 1.000 9 1997 2012
dbSNP: rs63750389
rs63750389 		0.925 0.160 2 47800532 missense variant A/G snv 8.0E-06
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 1.000 9 1997 2012
dbSNP: rs63750462
rs63750462 		1.000 0.160 2 47799851 missense variant C/A;G;T snv 4.0E-06
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 1.000 9 1997 2012
dbSNP: rs63750664
rs63750664 		0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05
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 1.000 9 1997 2012
dbSNP: rs587779227
rs587779227 		0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05
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 1.000 8 2008 2017
dbSNP: rs63750741
rs63750741 		0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05
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 1.000 7 2004 2016
dbSNP: rs267608121
rs267608121 		0.925 0.160 2 47806630 frameshift variant -/GTCA 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 1.000 6 2003 2015
dbSNP: rs267608058
rs267608058 		0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06
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 1.000 5 1999 2012
dbSNP: rs193922343
rs193922343 		0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA 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 1.000 3 2008 2015
dbSNP: rs267608094
rs267608094 		0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
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 1.000 3 2006 2011
dbSNP: rs267608120
rs267608120 		0.925 0.160 2 47806606 frameshift variant CAAG/- 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 1.000 3 2003 2011