rs67507747
|
0.827 |
0.160 |
17 |
50194032 |
missense variant |
C/A;G;T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
1 |
2001 |
2001 |
rs67815019
|
0.925 |
0.120 |
17 |
50187041 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs193922139
|
0.925 |
0.120 |
17 |
50195227 |
splice region variant |
C/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs144751329
|
1.000 |
0.120 |
17 |
50194380 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.0E-04
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555572125
|
1.000 |
0.120 |
17 |
50187975 |
frameshift variant |
T/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555572406
|
1.000 |
0.120 |
17 |
50189203 |
frameshift variant |
CT/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567751388
|
1.000 |
0.120 |
17 |
50185558 |
frameshift variant |
C/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567753448
|
1.000 |
0.120 |
17 |
50187121 |
missense variant |
C/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567761800
|
1.000 |
0.120 |
17 |
50196500 |
missense variant |
C/G
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567762262
|
1.000 |
0.120 |
17 |
50197012 |
frameshift variant |
GT/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922137
|
1.000 |
0.120 |
17 |
50195958 |
missense variant |
C/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922138
|
1.000 |
0.120 |
17 |
50195296 |
missense variant |
G/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922140
|
1.000 |
0.120 |
17 |
50194419 |
missense variant |
C/G
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922141
|
1.000 |
0.120 |
17 |
50194141 |
frameshift variant |
T/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922143
|
1.000 |
0.120 |
17 |
50193003 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922144
|
1.000 |
0.120 |
17 |
50191853 |
stop gained |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922145
|
1.000 |
0.120 |
17 |
50191457 |
stop gained |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922147
|
1.000 |
0.120 |
17 |
50190381 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922148
|
1.000 |
0.120 |
17 |
50190360 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922149
|
0.925 |
0.120 |
17 |
50190328 |
frameshift variant |
G/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922150
|
1.000 |
0.120 |
17 |
50189878 |
missense variant |
C/T
|
snv
|
2.5E-05
|
1.1E-04
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922151
|
0.925 |
0.120 |
17 |
50189521 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922152
|
1.000 |
0.120 |
17 |
50189208 |
missense variant |
T/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922154
|
1.000 |
0.120 |
17 |
50199589 |
splice acceptor variant |
CT/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922155
|
1.000 |
0.120 |
17 |
50199329 |
splice acceptor variant |
T/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|