rs1568318932
|
0.925 |
0.240 |
19 |
13075673 |
splice donor variant |
T/C
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs1555696625
|
0.851 |
0.360 |
19 |
13025409 |
missense variant |
G/A
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1568268397
|
0.925 |
0.240 |
19 |
13025129 |
stop gained |
A/T
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387907253
|
0.925 |
0.240 |
19 |
13073055 |
stop gained |
C/T
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122876
|
1.000 |
0.120 |
19 |
13075672 |
splice donor variant |
G/A;T
|
snv
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1568318540
|
1.000 |
0.120 |
19 |
13075547 |
frameshift variant |
C/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555696611
|
0.925 |
0.240 |
19 |
13025350 |
frameshift variant |
C/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555705733
|
1.000 |
0.120 |
19 |
13075641 |
frameshift variant |
-/C
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122869
|
1.000 |
0.120 |
19 |
13078665 |
frameshift variant |
TC/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122870
|
1.000 |
0.120 |
19 |
13078691 |
frameshift variant |
-/T
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122871
|
1.000 |
0.120 |
19 |
13078659 |
frameshift variant |
CTCTC/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122872
|
1.000 |
0.120 |
19 |
13078703 |
frameshift variant |
-/C
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122873
|
1.000 |
0.120 |
19 |
13081843 |
frameshift variant |
G/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122874
|
1.000 |
0.120 |
19 |
13078650 |
frameshift variant |
-/T
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398122875
|
1.000 |
0.120 |
19 |
13078613 |
frameshift variant |
-/C
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045737
|
1.000 |
0.120 |
19 |
13081680 |
frameshift variant |
GAGCCCCCGGGCCACAG/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045738
|
1.000 |
0.120 |
19 |
13078626 |
frameshift variant |
AA/-
|
delins
|
|
|
Marshall-Smith syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|