rs1555687572
|
1.000 |
0.120 |
18 |
51078331 |
missense variant |
G/A
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs864622252
|
1.000 |
0.120 |
18 |
51078320 |
frameshift variant |
T/-
|
delins
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs281875321
|
0.925 |
0.360 |
18 |
51078307 |
missense variant |
T/C
|
snv
|
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs281875321
|
0.925 |
0.360 |
18 |
51078307 |
missense variant |
T/C
|
snv
|
|
|
Disorder of macula of retina
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
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 |
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 |
|
|
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
13 |
2004 |
2016 |
rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
5 |
2014 |
2014 |
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 |
rs377767368
|
1.000 |
0.120 |
18 |
51078286 |
missense variant |
A/C
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs121912578
|
1.000 |
0.120 |
18 |
51078285 |
missense variant |
G/C
|
snv
|
|
|
Pancreatic carcinoma
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs377767367
|
1.000 |
0.120 |
18 |
51078280 |
missense variant |
G/T
|
snv
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
rs377767387
|
1.000 |
0.160 |
18 |
51076777 |
splice donor variant |
G/A
|
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 |
|
|
rs377767366
|
1.000 |
0.120 |
18 |
51076750 |
frameshift variant |
C/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs1555687388
|
|
|
18 |
51076746 |
frameshift variant |
G/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs377767365
|
1.000 |
0.120 |
18 |
51076740 |
frameshift variant |
GGCCCAGGATCAGTAGGTGGAATAG/-
|
del
|
|
|
Juvenile polyposis syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
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 |
|
|