rs1057516033
|
0.807 |
0.400 |
10 |
75025250 |
splice donor variant |
G/A
|
snv
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs199470482
|
0.925 |
0.440 |
10 |
75030015 |
frameshift variant |
-/TGCTGCAGCA
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1554843829
|
1.000 |
0.360 |
10 |
75022074 |
frameshift variant |
A/-
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554845880
|
1.000 |
0.360 |
10 |
75029376 |
frameshift variant |
-/GA
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554845902
|
1.000 |
0.360 |
10 |
75029406 |
frameshift variant |
A/-
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199470468
|
1.000 |
0.360 |
10 |
75021280 |
frameshift variant |
A/-
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199470476
|
1.000 |
0.360 |
10 |
75028893 |
stop gained |
G/T
|
snv
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199470479
|
1.000 |
0.360 |
10 |
75029228 |
frameshift variant |
-/T
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199470483
|
1.000 |
0.360 |
10 |
75030192 |
frameshift variant |
-/CAAC
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199470484
|
1.000 |
0.360 |
10 |
75030213 |
stop gained |
C/T
|
snv
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs387907364
|
1.000 |
0.360 |
10 |
75029888 |
frameshift variant |
TACTATGG/CACA
|
delins
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs751215527
|
1.000 |
0.360 |
10 |
75022115 |
stop gained |
G/C;T
|
snv
|
1.6E-05
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863224883
|
1.000 |
0.360 |
10 |
75028786 |
frameshift variant |
AA/-
|
del
|
|
|
Young Simpson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|