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: rs267608150
rs267608150 		0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 14 2006 2016
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.900 10 2008 2019
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: 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: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.090 0.889 9 2007 2019
dbSNP: rs267608150
rs267608150 		0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2006 2017
dbSNP: rs876661113
rs876661113 		7 5977587 splice donor variant C/A;G;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 8 2009 2016
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.070 0.857 7 2012 2019
dbSNP: rs587782704
rs587782704 		0.925 0.160 7 5982881 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 6 2013 2016
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: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2008 2017
dbSNP: rs587779346
rs587779346 		1.000 0.160 7 5992040 missense variant A/C snv
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 1.000 5 1995 2016
dbSNP: rs587779347
rs587779347 		1.000 0.160 7 5989957 splice acceptor variant T/C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2011 2016
dbSNP: rs587781626
rs587781626 		1.000 0.160 7 5973487 frameshift variant AT/C delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 1999 2016
dbSNP: rs587781716
rs587781716 		1.000 0.160 7 6003718 frameshift variant C/-;CC delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2010 2015
dbSNP: rs587781716
rs587781716 		1.000 0.160 7 6003718 frameshift variant C/-;CC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2010 2017
dbSNP: rs587782704
rs587782704 		0.925 0.160 7 5982881 frameshift variant T/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2013 2016
dbSNP: rs63750490
rs63750490 		1.000 0.160 7 5986925 stop gained T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2008 2016
dbSNP: rs1060503115
rs1060503115 		0.763 0.400 7 5978664 missense variant T/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 0.750 4 2011 2018
dbSNP: rs267608154
rs267608154 		0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2006 2013
dbSNP: rs587782710
rs587782710 		1.000 7 5997376 frameshift variant GGAGTCAC/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2010 2016
dbSNP: rs63750049
rs63750049 		0.925 0.160 7 5989923 frameshift variant T/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2005 2008
dbSNP: rs63750695
rs63750695 		0.851 0.280 7 5978675 frameshift variant AAGTT/- delins
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs863224676
rs863224676 		7 6005924 inframe deletion TACTAACTC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1999 2015