rs1553335247
|
1.000 |
|
2 |
47809195 |
missense variant |
A/G
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
|
0.800 |
1.000 |
3 |
2017 |
2018 |
rs63750138
|
0.851 |
0.160 |
2 |
47800297 |
missense variant |
C/A;G;T
|
snv
|
2.0E-05;
8.0E-06
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.720 |
1.000 |
13 |
2001 |
2019 |
rs2020912
|
0.807 |
0.480 |
2 |
47800616 |
missense variant |
T/C;G
|
snv
|
5.1E-03
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.710 |
1.000 |
13 |
1999 |
2012 |
rs786201042
|
0.827 |
0.240 |
2 |
47783243 |
stop gained |
C/G;T
|
snv
|
2.5E-05
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
3 |
2010 |
2015 |
rs63750741
|
0.827 |
0.200 |
2 |
47799329 |
missense variant |
T/C
|
snv
|
1.2E-05
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
2004 |
2005 |
rs61753793
|
0.851 |
0.120 |
2 |
47799002 |
missense variant |
T/C
|
snv
|
3.6E-05
|
5.6E-05
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs267608078
|
0.882 |
0.160 |
2 |
47803501 |
frameshift variant |
C/-;CC;CCC
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
33 |
1997 |
2017 |
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 |
rs63750617
|
0.851 |
0.160 |
2 |
47803473 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
9.5E-05
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
18 |
2004 |
2017 |
rs267608078
|
0.882 |
0.160 |
2 |
47803501 |
frameshift variant |
C/-;CC;CCC
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
16 |
1997 |
2017 |
rs63749873
|
0.882 |
0.160 |
2 |
47795903 |
stop gained |
C/G
|
snv
|
4.0E-06
|
1.4E-05
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
14 |
1999 |
2015 |
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 |
rs63751017
|
0.851 |
0.240 |
2 |
47800714 |
stop gained |
C/A;T
|
snv
|
|
1.4E-05
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
13 |
2003 |
2017 |
rs2020912
|
0.807 |
0.480 |
2 |
47800616 |
missense variant |
T/C;G
|
snv
|
5.1E-03
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs267608140
|
0.925 |
0.160 |
2 |
47806838 |
missense variant |
T/A;C
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs34374438
|
1.000 |
0.080 |
2 |
47800544 |
missense variant |
A/T
|
snv
|
3.9E-04
|
3.5E-04
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs35552856
|
1.000 |
0.160 |
2 |
47800166 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
1.2E-05
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs63749843
|
0.827 |
0.240 |
2 |
47803449 |
stop gained |
C/A;G;T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
2002 |
2018 |
rs63749973
|
0.925 |
0.160 |
2 |
47799679 |
stop gained |
G/A;T
|
snv
|
2.4E-04
|
2.8E-05
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs63749973
|
0.925 |
0.160 |
2 |
47799679 |
stop gained |
G/A;T
|
snv
|
2.4E-04
|
2.8E-05
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs63750143
|
1.000 |
0.160 |
2 |
47791049 |
missense variant |
G/A;T
|
snv
|
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1997 |
2017 |
rs63750157
|
1.000 |
0.080 |
2 |
47804943 |
missense variant |
T/C
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs63750253
|
0.925 |
0.160 |
2 |
47803531 |
missense variant |
G/A
|
snv
|
4.8E-05
|
2.8E-05
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs63750287
|
1.000 |
0.080 |
2 |
47801045 |
missense variant |
C/A;G
|
snv
|
8.4E-06
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |
rs63750304
|
1.000 |
0.080 |
2 |
47800158 |
missense variant |
C/G
|
snv
|
1.6E-05
|
7.0E-06
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1999 |
2012 |