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 |
rs1555686616
|
1.000 |
0.120 |
18 |
51067149 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767376
|
1.000 |
0.120 |
18 |
51078394 |
frameshift variant |
-/A
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs786201200
|
|
|
18 |
51067120 |
frameshift variant |
-/A
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767324
|
1.000 |
0.120 |
18 |
51048809 |
frameshift variant |
-/AT
|
ins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1568206602
|
1.000 |
0.120 |
18 |
51059897 |
frameshift variant |
-/C
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1555685974
|
|
|
18 |
51058449 |
splice donor variant |
-/CATTACTG
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs377767364
|
1.000 |
0.120 |
18 |
51076738 |
frameshift variant |
-/CCCT
|
ins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs730881956
|
|
|
18 |
51067135 |
frameshift variant |
-/CG
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767334
|
0.925 |
0.200 |
18 |
51058143 |
frameshift variant |
-/G
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
2 |
1998 |
2010 |
rs377767334
|
0.925 |
0.200 |
18 |
51058143 |
frameshift variant |
-/G
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767334
|
0.925 |
0.200 |
18 |
51058143 |
frameshift variant |
-/G
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767338
|
1.000 |
0.120 |
18 |
51059884 |
frameshift variant |
-/GCAT
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767335
|
1.000 |
0.120 |
18 |
51058186 |
frameshift variant |
-/GCCC
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs786204125
|
1.000 |
0.120 |
18 |
51076682 |
frameshift variant |
-/GCTACTGCACAAGCTGCAGCAGCTGCCC
|
delins
|
4.0E-06
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1555686604
|
|
|
18 |
51067079 |
frameshift variant |
-/T
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767341
|
1.000 |
0.120 |
18 |
51065447 |
frameshift variant |
-/T
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767384
|
1.000 |
0.120 |
18 |
51078414 |
frameshift variant |
-/T
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs878854765
|
1.000 |
0.120 |
18 |
51067083 |
frameshift variant |
-/T
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1555687599
|
1.000 |
0.160 |
18 |
51078393 |
frameshift variant |
-/TA
|
delins
|
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377767325
|
1.000 |
0.120 |
18 |
51048810 |
frameshift variant |
-/TGTCTGT
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs876660150
|
|
|
18 |
51078392 |
frameshift variant |
-/TT
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
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 |
|
|