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: rs63749843
rs63749843
0.827 0.240 2 47803449 stop gained C/A;G;T snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2010
dbSNP: rs63749873
rs63749873
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 4 1992 2014
dbSNP: rs63750342
rs63750342
0.925 0.160 2 47791092 stop gained G/A snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2004
dbSNP: rs587783056
rs587783056
0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2014
dbSNP: rs1060502901
rs1060502901
1.000 0.160 2 47803435 missense variant T/G snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553412495
rs1553412495
1.000 0.160 2 47799083 missense variant A/G snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1558664787
rs1558664787
1.000 0.160 2 47800217 missense variant T/A snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587779294
rs587779294
1.000 0.160 2 47806470 stop gained G/A;C;T snv
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587781462
rs587781462
0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs63749919
rs63749919
1.000 0.160 2 47800889 missense variant A/C;G;T snv 1.2E-05; 8.2E-06
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs63750617
rs63750617
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs63750832
rs63750832
1.000 0.160 2 47800075 stop gained C/A;G;T snv 8.0E-06
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs773226008
rs773226008
1.000 0.160 2 47799428 missense variant G/A;C snv 8.0E-06
Colorectal cancer, hereditary nonpolyposis, type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0