Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 ×
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: rs63750695
rs63750695 		0.851 0.280 7 5978675 frameshift variant AAGTT/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 6 2008 2016
dbSNP: rs267608154
rs267608154 		0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 2 2008 2013
dbSNP: rs1057515572
rs1057515572 		0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs267608173
rs267608173 		0.925 0.160 7 5978625 frameshift variant TTCT/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs63750246
rs63750246 		0.925 0.160 7 5995574 frameshift variant GT/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1057515571
rs1057515571 		1.000 0.160 7 5995591 frameshift variant C/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1261282733
rs1261282733 		1.000 0.160 7 5995564 frameshift variant A/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554304745
rs1554304745 		1.000 0.160 7 6003772 frameshift variant -/GA delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267608150
rs267608150 		0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267608159
rs267608159 		1.000 0.160 7 5987526 frameshift variant TTT/-;TTTT;TTTTTT delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587781716
rs587781716 		1.000 0.160 7 6003718 frameshift variant C/-;CC delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587782704
rs587782704 		0.925 0.160 7 5982881 frameshift variant T/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs63750049
rs63750049 		0.925 0.160 7 5989923 frameshift variant T/- delins
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs63750250
rs63750250 		0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121434629
rs121434629 		0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.800 1.000 15 2005 2017
dbSNP: rs587779342
rs587779342 		0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.800 1.000 13 1999 2017
dbSNP: rs587779345
rs587779345 		0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1805324
rs1805324 		1.000 0.160 7 5986899 missense variant C/G;T snv 1.6E-02
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs267608152
rs267608152 		1.000 0.160 7 5977643 missense variant A/C;G snv
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs267608161
rs267608161 		0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs267608174
rs267608174 		1.000 0.160 7 5973460 missense variant C/T snv
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs587779332
rs587779332 		1.000 0.160 7 5986777 missense variant T/G snv
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs587779337
rs587779337 		1.000 0.160 7 5978622 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs587779341
rs587779341 		1.000 0.160 7 5999269 missense variant C/T snv 4.0E-06; 4.0E-06
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013
dbSNP: rs63750685
rs63750685 		0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 1999 2013