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: rs267608078
rs267608078
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 19 1997 2015
dbSNP: rs63750767
rs63750767
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 13 2005 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 10 2005 2016
dbSNP: rs587779227
rs587779227
0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 9 2008 2017
dbSNP: rs63750617
rs63750617
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 9 2004 2017
dbSNP: rs63751319
rs63751319
0.925 0.160 2 47806490 frameshift variant GGAGACT/- del
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 9 2005 2014
dbSNP: rs267608120
rs267608120
0.925 0.160 2 47806606 frameshift variant CAAG/- delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 8 2003 2016
dbSNP: rs63749873
rs63749873
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 8 1999 2014
dbSNP: rs63749942
rs63749942
1.000 0.160 2 47806279 inframe deletion CGT/- delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 8 2007 2016
dbSNP: rs760190301
rs760190301
1.000 0.160 2 47806582 frameshift variant -/GTTA delins 4.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 8 1998 2017
dbSNP: rs267608121
rs267608121
0.925 0.160 2 47806630 frameshift variant -/GTCA delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2015
dbSNP: rs63751327
rs63751327
0.925 0.160 2 47804984 frameshift variant -/A;AA delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 7 1999 2014
dbSNP: rs267608058
rs267608058
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 6 1999 2013
dbSNP: rs267608126
rs267608126
1.000 0.160 2 47806586 frameshift variant -/TTCA delins 7.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 6 2005 2013
dbSNP: rs587782326
rs587782326
2 47806628 frameshift variant -/A delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2015
dbSNP: rs1553333497
rs1553333497
2 47806526 frameshift variant TGTCCTAAAAGCT/- delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2005 2013
dbSNP: rs1553333605
rs1553333605
2 47806576 frameshift variant -/GAGA ins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2005 2013
dbSNP: rs1558393070
rs1558393070
1.000 0.160 2 47806462 frameshift variant -/GAAAATGAATGTGA delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2005 2013
dbSNP: rs1558394336
rs1558394336
2 47806602 frameshift variant AAGCAAGAGAATTTGAGAA/- delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2011
dbSNP: rs267608098
rs267608098
0.925 0.160 2 47804908 splice acceptor variant A/G;T snv
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 2015
dbSNP: rs587779285
rs587779285
2 47806281 missense variant C/A;G;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2014
dbSNP: rs587779297
rs587779297
1.000 0.160 2 47806604 frameshift variant A/-;AA;AAA delins
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2014
dbSNP: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2002 2014
dbSNP: rs63750909
rs63750909
0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 2004 2012
dbSNP: rs63750955
rs63750955
0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05
Hereditary Nonpolyposis Colorectal Neoplasms
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 5 1991 2010