rs281875324
|
1.000 |
0.120 |
18 |
51065456 |
missense variant |
A/C;G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
2002 |
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 |
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.710 |
1.000 |
3 |
2014 |
2019 |
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 |
rs876660556
|
|
|
18 |
51065555 |
missense variant |
G/A;C
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
3 |
2007 |
2013 |
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 |
rs281875320
|
1.000 |
0.320 |
18 |
51078308 |
missense variant |
A/G
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
rs281875321
|
0.925 |
0.360 |
18 |
51078307 |
missense variant |
T/C
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
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 |
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 |
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 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Gastric Adenocarcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Adenocarcinoma of lung (disorder)
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Esophageal carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Adenocarcinoma of prostate
|
Neoplasms; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519962
|
0.827 |
0.160 |
18 |
51067035 |
missense variant |
G/A;T
|
snv
|
|
|
Adenocarcinoma of pancreas
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1060500733
|
1.000 |
0.120 |
18 |
51065563 |
stop gained |
C/T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
1 |
2014 |
2014 |
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 |
rs121912580
|
0.807 |
0.280 |
18 |
51067036 |
missense variant |
G/A;C;T
|
snv
|
|
|
Adenocarcinoma of lung (disorder)
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |