rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Colorectal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
8 |
1996 |
2016 |
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 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
7 |
1998 |
2010 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Adenocarcinoma of pancreas
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Gastric Adenocarcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Mammary Neoplasms
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Adenocarcinoma of lung (disorder)
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Squamous cell carcinoma of the head and neck
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Uterine Cervical Neoplasm
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Esophageal carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Pancreatic carcinoma
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
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
|
0.700 |
|
0 |
|
|
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;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 |
|
|
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 |
rs80338965
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
11 |
1998 |
2017 |
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 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-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
|
0.820 |
1.000 |
4 |
2011 |
2020 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Polydactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2020 |
2020 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Precocious Puberty
|
Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2020 |
2020 |
rs1555686624
|
0.882 |
0.480 |
18 |
51067189 |
splice donor variant |
T/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1555686624
|
0.882 |
0.480 |
18 |
51067189 |
splice donor variant |
T/C
|
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 |
|
|
rs1555686624
|
0.882 |
0.480 |
18 |
51067189 |
splice donor 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
|
0.700 |
|
0 |
|
|
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
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 |
|
|
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Pancreatic carcinoma
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
|
0 |
|
|