rs200872702
|
1.000 |
0.120 |
1 |
45332597 |
missense variant |
T/C
|
snv
|
2.2E-04
|
8.4E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
22 |
2002 |
2017 |
rs34126013
|
0.925 |
0.160 |
1 |
45332458 |
missense variant |
G/A
|
snv
|
6.8E-05
|
2.1E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
22 |
2002 |
2016 |
rs533899702
|
1.000 |
0.120 |
1 |
45332785 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
22 |
2002 |
2017 |
rs587782263
|
1.000 |
0.120 |
1 |
45331193 |
missense variant |
C/A;T
|
snv
|
3.6E-05
|
6.3E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
22 |
2002 |
2017 |
rs768553551
|
1.000 |
0.120 |
1 |
45332617 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
22 |
2002 |
2017 |
rs777184451
|
1.000 |
0.120 |
1 |
45332952 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
22 |
2002 |
2017 |
rs587778541
|
0.925 |
0.120 |
1 |
45331219 |
inframe deletion |
CCT/-
|
delins
|
9.5E-05
|
2.8E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
20 |
2003 |
2015 |
rs769237459
|
1.000 |
0.120 |
1 |
45332279 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
20 |
2002 |
2017 |
rs876659676
|
1.000 |
0.120 |
1 |
45332252 |
missense variant |
T/C
|
snv
|
4.0E-06
|
1.4E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
17 |
2002 |
2016 |
rs747993448
|
1.000 |
0.120 |
1 |
45332795 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.8E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
16 |
2004 |
2017 |
rs754155145
|
0.925 |
0.120 |
1 |
45332773 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
15 |
2002 |
2016 |
rs79777494
|
0.882 |
0.120 |
1 |
45334495 |
missense variant |
G/A
|
snv
|
1.1E-03
|
4.9E-04
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
15 |
2002 |
2016 |
rs143353451
|
0.851 |
0.120 |
1 |
45332794 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
1.2E-05
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
14 |
2004 |
2017 |
rs121908381
|
0.925 |
0.120 |
1 |
45331220 |
stop gained |
C/A
|
snv
|
5.2E-05
|
7.0E-06
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
13 |
2002 |
2017 |
rs121908380
|
0.882 |
0.160 |
1 |
45333449 |
stop gained |
G/A;T
|
snv
|
1.4E-03;
1.2E-04
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
2002 |
2015 |
rs372267274
|
0.882 |
0.120 |
1 |
45333171 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
1987 |
2014 |
rs587778536
|
0.882 |
0.120 |
1 |
45331700 |
frameshift variant |
G/-
|
delins
|
6.4E-05
|
4.2E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
2003 |
2013 |
rs768130289
|
1.000 |
0.120 |
1 |
45331746 |
frameshift variant |
GG/-;G;GGG
|
delins
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
2001 |
2015 |
rs1553125766
|
1.000 |
0.120 |
1 |
45331474 |
frameshift variant |
TTC/G
|
delins
|
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
10 |
1998 |
2015 |
rs587783057
|
0.925 |
0.120 |
1 |
45331676 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
10 |
2005 |
2015 |
rs587780078
|
0.882 |
0.120 |
1 |
45331514 |
frameshift variant |
-/CC
|
delins
|
1.6E-04
|
2.7E-04
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
9 |
2004 |
2015 |
rs138775799
|
0.925 |
0.120 |
1 |
45333472 |
stop gained |
G/A
|
snv
|
1.2E-05
|
3.5E-05
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
2003 |
2010 |
rs1060501346
|
1.000 |
0.120 |
1 |
45332457 |
missense variant |
C/T
|
snv
|
2.8E-05
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs138089183
|
0.925 |
0.120 |
1 |
45332174 |
missense variant |
G/A
|
snv
|
4.5E-04
|
5.0E-04
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2013 |
2017 |
rs144079536
|
1.000 |
0.120 |
1 |
45331485 |
missense variant |
G/C;T
|
snv
|
4.0E-06;
5.9E-04
|
|
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2013 |
2017 |