rs104893646
|
1.000 |
0.320 |
2 |
15945880 |
missense variant |
G/A
|
snv
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
3 |
2005 |
2008 |
rs104893648
|
0.882 |
0.320 |
2 |
15945883 |
missense variant |
G/A;T
|
snv
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
3 |
2005 |
2008 |
rs104893647
|
1.000 |
0.320 |
2 |
15945879 |
missense variant |
C/A
|
snv
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2005 |
2006 |
rs759103701
|
0.925 |
0.320 |
2 |
15945666 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2005 |
2008 |
rs1057519919
|
0.851 |
0.160 |
2 |
15942195 |
missense variant |
C/T
|
snv
|
|
|
Malignant Uterine Corpus Neoplasm
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519919
|
0.851 |
0.160 |
2 |
15942195 |
missense variant |
C/T
|
snv
|
|
|
Adenocarcinoma of pancreas
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519919
|
0.851 |
0.160 |
2 |
15942195 |
missense variant |
C/T
|
snv
|
|
|
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519919
|
0.851 |
0.160 |
2 |
15942195 |
missense variant |
C/T
|
snv
|
|
|
Medulloblastoma
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519919
|
0.851 |
0.160 |
2 |
15942195 |
missense variant |
C/T
|
snv
|
|
|
Glioblastoma
|
Neoplasms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs754137452
|
1.000 |
0.320 |
2 |
15945819 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs759103701
|
0.925 |
0.320 |
2 |
15945666 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Short middle phalanx of finger
|
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs759103701
|
0.925 |
0.320 |
2 |
15945666 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Esophageal atresia with or without tracheoesophageal fistula
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs759103701
|
0.925 |
0.320 |
2 |
15945666 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Short palpebral fissure
|
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs104893648
|
0.882 |
0.320 |
2 |
15945883 |
missense variant |
G/A;T
|
snv
|
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs104893648
|
0.882 |
0.320 |
2 |
15945883 |
missense variant |
G/A;T
|
snv
|
|
|
Esophageal atresia with or without tracheoesophageal fistula
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs104893648
|
0.882 |
0.320 |
2 |
15945883 |
missense variant |
G/A;T
|
snv
|
|
|
Esophageal Atresia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs113994115
|
1.000 |
0.320 |
2 |
15942281 |
stop gained |
G/T
|
snv
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121913666
|
1.000 |
0.320 |
2 |
15945847 |
missense variant |
G/A
|
snv
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121913667
|
1.000 |
0.320 |
2 |
15942295 |
stop gained |
G/A
|
snv
|
|
|
Oculodigitoesophagoduodenal syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553370260
|
0.925 |
0.320 |
2 |
15942129 |
frameshift variant |
-/CGCT
|
delins
|
|
|
FEINGOLD SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553370260
|
0.925 |
0.320 |
2 |
15942129 |
frameshift variant |
-/CGCT
|
delins
|
|
|
Small anterior fontanelle
|
|
0.700 |
|
0 |
|
|
rs1553370260
|
0.925 |
0.320 |
2 |
15942129 |
frameshift variant |
-/CGCT
|
delins
|
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs1553370260
|
0.925 |
0.320 |
2 |
15942129 |
frameshift variant |
-/CGCT
|
delins
|
|
|
Duodenal atresia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1553370918
|
0.851 |
0.360 |
2 |
15945602 |
frameshift variant |
TG/-
|
delins
|
|
|
Micrognathism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1553370918
|
0.851 |
0.360 |
2 |
15945602 |
frameshift variant |
TG/-
|
delins
|
|
|
Syndactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|