rs3819122
|
|
|
18 |
51084461 |
3 prime UTR variant |
A/C;G;T
|
snv
|
|
|
Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs377767385
|
1.000 |
0.160 |
18 |
51078418 |
frameshift variant |
GAAGTACTTCATAC/-
|
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 |
|
|
rs1057519741
|
|
|
18 |
51078417 |
missense variant |
G/T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
7 |
1996 |
2007 |
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 |
|
|
rs377767383
|
1.000 |
0.160 |
18 |
51078408 |
stop gained |
C/T
|
snv
|
|
|
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 |
|
|
rs377767382
|
1.000 |
0.160 |
18 |
51078406 |
missense variant |
T/C;G
|
snv
|
|
|
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 |
|
|
rs377767381
|
1.000 |
0.120 |
18 |
51078405 |
missense variant |
C/G;T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767379
|
1.000 |
0.160 |
18 |
51078404 |
frameshift variant |
CC/T
|
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 |
|
|
rs377767380
|
1.000 |
0.160 |
18 |
51078403 |
frameshift variant |
C/-
|
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 |
|
|
rs377767378
|
1.000 |
0.160 |
18 |
51078400 |
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 |
|
|
rs377767377
|
1.000 |
0.120 |
18 |
51078396 |
frameshift variant |
C/-
|
del
|
|
|
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 |
|
|
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 |
|
|
rs876660150
|
|
|
18 |
51078392 |
frameshift variant |
-/TT
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs377767375
|
1.000 |
0.120 |
18 |
51078379 |
missense variant |
G/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767374
|
1.000 |
0.120 |
18 |
51078372 |
frameshift variant |
CC/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767373
|
1.000 |
0.120 |
18 |
51078355 |
frameshift variant |
AG/-;AGAGAG
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs377767372
|
1.000 |
0.120 |
18 |
51078352 |
frameshift variant |
G/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs121912579
|
1.000 |
0.120 |
18 |
51078351 |
stop gained |
A/T
|
snv
|
|
|
Pancreatic carcinoma
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs377767371
|
1.000 |
0.120 |
18 |
51078337 |
missense variant |
G/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767370
|
1.000 |
0.120 |
18 |
51078335 |
stop gained |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs377767369
|
1.000 |
0.120 |
18 |
51078333 |
missense variant |
T/A;G
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|