rs1131692320
|
1.000 |
0.120 |
17 |
50187103 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555574303
|
0.790 |
0.240 |
17 |
50196172 |
missense variant |
C/G
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66490707
|
0.790 |
0.240 |
17 |
50195231 |
splice donor variant |
C/G;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66523073
|
0.925 |
0.120 |
17 |
50188777 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66527965
|
0.763 |
0.240 |
17 |
50193038 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66555264
|
0.790 |
0.240 |
17 |
50192993 |
splice donor variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67368147
|
0.925 |
0.120 |
17 |
50191805 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67682641
|
0.807 |
0.240 |
17 |
50194375 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67693970
|
0.882 |
0.120 |
17 |
50190099 |
missense variant |
C/G;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67879854
|
0.790 |
0.240 |
17 |
50190578 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72645320
|
1.000 |
0.120 |
17 |
50197053 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72648326
|
0.790 |
0.240 |
17 |
50195288 |
stop gained |
G/A
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72651642
|
0.790 |
0.240 |
17 |
50191826 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72653131
|
0.882 |
0.120 |
17 |
50190045 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72653170
|
0.752 |
0.240 |
17 |
50188908 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72654795
|
0.925 |
0.120 |
17 |
50188565 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72656353
|
1.000 |
0.120 |
17 |
50185506 |
missense variant |
A/G
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72667031
|
0.925 |
0.120 |
17 |
50197983 |
missense variant |
C/A
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67641695
|
1.000 |
0.120 |
17 |
50188592 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2008 |
rs72645357
|
0.776 |
0.240 |
17 |
50196163 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
15 |
1989 |
2008 |
rs72645363
|
1.000 |
0.120 |
17 |
50195931 |
missense variant |
C/G
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2008 |
rs72651658
|
0.827 |
0.200 |
17 |
50190861 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2008 |
rs72656320
|
1.000 |
0.120 |
17 |
50187095 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2008 |
rs72656332
|
0.882 |
0.120 |
17 |
50186895 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2008 |
rs72651645
|
0.925 |
0.160 |
17 |
50191463 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
16 |
1989 |
2015 |