rs121908951
|
1.000 |
0.120 |
10 |
87709311 |
missense variant |
C/G
|
snv
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
5 |
1998 |
2015 |
rs121908952
|
1.000 |
0.120 |
10 |
87727403 |
stop gained |
C/T
|
snv
|
3.6E-05
|
1.4E-05
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
2 |
2009 |
2013 |
rs138943074
|
1.000 |
0.120 |
10 |
87715787 |
missense variant |
G/A
|
snv
|
3.2E-04
|
3.7E-04
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1998 |
2015 |
rs797045099
|
1.000 |
0.120 |
10 |
87745166 |
frameshift variant |
ATTCC/-
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1998 |
2013 |
rs121908950
|
1.000 |
0.120 |
10 |
87743589 |
stop gained |
C/A
|
snv
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1471554906
|
1.000 |
0.120 |
10 |
87715027 |
frameshift variant |
TT/-
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs374379931
|
1.000 |
0.080 |
10 |
87713151 |
stop gained |
C/G
|
snv
|
2.0E-05
|
4.2E-05
|
Brachyolmia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs606231241
|
1.000 |
0.120 |
10 |
87713265 |
frameshift variant |
-/G
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs606231242
|
1.000 |
0.120 |
10 |
87714838 |
frameshift variant |
GTAGTGGAACTTCTGCAAG/-
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs606231243
|
1.000 |
0.120 |
10 |
87714137 |
frameshift variant |
-/CGTA
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs786200933
|
1.000 |
0.120 |
10 |
87743455 |
frameshift variant |
AG/-
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs786200934
|
1.000 |
0.120 |
10 |
87715005 |
frameshift variant |
A/-
|
delins
|
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|