rs121434629
|
0.763 |
0.320 |
7 |
6005918 |
missense variant |
C/A;T
|
snv
|
1.6E-04;
8.1E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
26 |
2004 |
2018 |
rs121434629
|
0.763 |
0.320 |
7 |
6005918 |
missense variant |
C/A;T
|
snv
|
1.6E-04;
8.1E-06
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
25 |
1995 |
2018 |
rs121434629
|
0.763 |
0.320 |
7 |
6005918 |
missense variant |
C/A;T
|
snv
|
1.6E-04;
8.1E-06
|
|
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 |
rs267608150
|
0.851 |
0.320 |
7 |
5997388 |
stop gained |
AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN
|
delins
|
|
|
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 |
rs587779342
|
0.925 |
0.200 |
7 |
5999199 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
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 |
rs587779345
|
0.925 |
0.200 |
7 |
5997342 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
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 |
rs63751466
|
0.882 |
0.200 |
7 |
5977629 |
stop gained |
G/A;T
|
snv
|
2.7E-05
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1986 |
2017 |
rs1060503115
|
0.763 |
0.400 |
7 |
5978664 |
missense variant |
T/A;G
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.100 |
0.900 |
10 |
2008 |
2019 |
rs121434629
|
0.763 |
0.320 |
7 |
6005918 |
missense variant |
C/A;T
|
snv
|
1.6E-04;
8.1E-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 |
rs1805324
|
1.000 |
0.160 |
7 |
5986899 |
missense variant |
C/G;T
|
snv
|
1.6E-02
|
|
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 |
rs267608152
|
1.000 |
0.160 |
7 |
5977643 |
missense variant |
A/C;G
|
snv
|
|
|
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 |
rs267608174
|
1.000 |
0.160 |
7 |
5973460 |
missense variant |
C/T
|
snv
|
|
|
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 |
rs587779332
|
1.000 |
0.160 |
7 |
5986777 |
missense variant |
T/G
|
snv
|
|
|
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 |
rs587779337
|
1.000 |
0.160 |
7 |
5978622 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
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 |
rs587779341
|
1.000 |
0.160 |
7 |
5999269 |
missense variant |
C/T
|
snv
|
4.0E-06;
4.0E-06
|
|
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 |
rs587780059
|
0.882 |
0.200 |
7 |
6009018 |
start lost |
A/C;G;T
|
snv
|
4.0E-06;
4.0E-06;
8.0E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
2001 |
2016 |
rs63750685
|
0.925 |
0.200 |
7 |
5987328 |
missense variant |
G/A;C
|
snv
|
1.6E-05;
4.2E-03
|
|
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 |
rs1060503115
|
0.763 |
0.400 |
7 |
5978664 |
missense variant |
T/A;G
|
snv
|
|
|
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 |
rs63751466
|
0.882 |
0.200 |
7 |
5977629 |
stop gained |
G/A;T
|
snv
|
2.7E-05
|
|
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 |
9 |
1995 |
2015 |
rs267608150
|
0.851 |
0.320 |
7 |
5997388 |
stop gained |
AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
8 |
2006 |
2017 |
rs587779337
|
1.000 |
0.160 |
7 |
5978622 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
8 |
2008 |
2017 |
rs587779343
|
1.000 |
0.160 |
7 |
5999116 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
8 |
2009 |
2017 |
rs876661113
|
|
|
7 |
5977587 |
splice donor variant |
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 |
8 |
2009 |
2016 |
rs1060503115
|
0.763 |
0.400 |
7 |
5978664 |
missense variant |
T/A;G
|
snv
|
|
|
Lynch Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.070 |
0.857 |
7 |
2012 |
2019 |
rs267608172
|
0.925 |
0.160 |
7 |
5982823 |
splice donor variant |
C/A;G;T
|
snv
|
4.1E-06;
1.6E-05
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
2008 |
2016 |