rs80338963
|
0.776 |
0.280 |
18 |
51065548 |
missense variant |
C/A;G;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
14 |
1997 |
2016 |
rs281875324
|
1.000 |
0.120 |
18 |
51065456 |
missense variant |
A/C;G
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
2 |
1998 |
2002 |
rs80338965
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
12 |
1998 |
2017 |
rs587783060
|
1.000 |
0.120 |
18 |
51078354 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
11 |
2000 |
2013 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
1998 |
2016 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2011 |
2016 |
rs1555687386
|
1.000 |
0.120 |
18 |
51076734 |
frameshift variant |
-/CCCT
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
6 |
1997 |
2012 |
rs1568211187
|
1.000 |
0.120 |
18 |
51076670 |
frameshift variant |
AGCAGCAGGCGGCTACTGCACAAGC/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
5 |
1997 |
2012 |
rs1555685248
|
1.000 |
0.120 |
18 |
51049326 |
splice donor variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1555686086
|
1.000 |
0.120 |
18 |
51059916 |
splice donor variant |
G/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1555687377
|
1.000 |
0.120 |
18 |
51076637 |
splice acceptor variant |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1568208715
|
1.000 |
0.120 |
18 |
51067017 |
splice acceptor variant |
A/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2014 |
2014 |
rs587781618
|
1.000 |
0.120 |
18 |
51067188 |
splice donor variant |
G/A;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1060500740
|
1.000 |
0.120 |
18 |
51076778 |
splice donor variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs121912581
|
0.925 |
0.200 |
18 |
51065521 |
missense variant |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
1998 |
2002 |
rs377767326
|
1.000 |
0.120 |
18 |
51048839 |
stop gained |
C/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2006 |
2007 |
rs1060500744
|
1.000 |
0.120 |
18 |
51078334 |
frameshift variant |
G/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1555687387
|
1.000 |
0.120 |
18 |
51076736 |
frameshift variant |
C/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1568211588
|
1.000 |
0.120 |
18 |
51078380 |
stop gained |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs377767328
|
1.000 |
0.120 |
18 |
51049296 |
frameshift variant |
TC/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs377767358
|
1.000 |
0.120 |
18 |
51067121 |
frameshift variant |
A/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1060500733
|
1.000 |
0.120 |
18 |
51065563 |
stop gained |
C/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1060500734
|
1.000 |
0.120 |
18 |
51067077 |
frameshift variant |
A/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1060500739
|
1.000 |
0.120 |
18 |
51048696 |
frameshift variant |
AAGGA/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|