rs199476087
|
1.000 |
0.120 |
10 |
86899830 |
missense variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
8 |
2001 |
2017 |
rs199476088
|
1.000 |
0.120 |
10 |
86919430 |
missense variant |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
8 |
2001 |
2017 |
rs199476086
|
0.925 |
0.120 |
10 |
86919316 |
missense variant |
C/A;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.800 |
1.000 |
4 |
2001 |
2003 |
rs587783038
|
1.000 |
0.120 |
10 |
86890109 |
frameshift variant |
-/A
|
ins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs199476089
|
1.000 |
0.120 |
10 |
86923442 |
missense variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
4 |
2001 |
2003 |
rs1564673999
|
1.000 |
0.120 |
10 |
86756638 |
splice donor variant |
CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
3 |
2010 |
2012 |
rs1060503408
|
1.000 |
0.120 |
10 |
86919236 |
frameshift variant |
C/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs1554886816
|
1.000 |
0.120 |
10 |
86876060 |
frameshift variant |
TGTT/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2001 |
2013 |
rs1564715427
|
1.000 |
0.120 |
10 |
86892126 |
splice acceptor variant |
G/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs1564724111
|
1.000 |
0.120 |
10 |
86919170 |
splice acceptor variant |
AGGTT/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs587782400
|
1.000 |
0.120 |
10 |
86917275 |
stop gained |
C/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2001 |
2009 |
rs587782682
|
1.000 |
0.120 |
10 |
86917140 |
stop gained |
C/A;T
|
snv
|
3.2E-05
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2002 |
2013 |
rs786203157
|
1.000 |
0.120 |
10 |
86876019 |
start lost |
A/C;G
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
2 |
2009 |
2013 |
rs1564722014
|
1.000 |
0.120 |
10 |
86912382 |
frameshift variant |
T/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs786201038
|
1.000 |
0.120 |
10 |
86890165 |
frameshift variant |
T/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs876660442
|
1.000 |
0.120 |
10 |
86899863 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs878854664
|
1.000 |
0.120 |
10 |
86923631 |
stop gained |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
1993 |
1993 |
rs1060503409
|
1.000 |
0.120 |
10 |
86919249 |
frameshift variant |
CTCT/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064792985
|
1.000 |
0.120 |
10 |
86890203 |
frameshift variant |
TATTAATAACACATGC/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1131691168
|
1.000 |
0.120 |
10 |
86899848 |
missense variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1131691179
|
1.000 |
0.120 |
10 |
86900037 |
frameshift variant |
TGATGGCAGCATTCGATG/GA
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1131691181
|
1.000 |
0.120 |
10 |
86921574 |
stop gained |
C/G
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1230919713
|
1.000 |
0.120 |
10 |
86917292 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1404557708
|
1.000 |
0.120 |
10 |
86919213 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1554888970
|
1.000 |
0.120 |
10 |
86899822 |
frameshift variant |
AGAATGTTGTCGGACCAAT/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|