rs1554397369
|
1.000 |
0.120 |
7 |
94418526 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1562906570
|
1.000 |
0.120 |
7 |
94424427 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922159
|
1.000 |
0.120 |
7 |
94410478 |
missense variant |
C/A;G
|
snv
|
5.1E-05
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922162
|
1.000 |
0.120 |
7 |
94417733 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922165
|
1.000 |
0.120 |
7 |
94425655 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922166
|
1.000 |
0.120 |
7 |
94427004 |
splice acceptor variant |
A/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922167
|
1.000 |
0.120 |
7 |
94427639 |
frameshift variant |
C/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922168
|
1.000 |
0.120 |
7 |
94427714 |
missense variant |
G/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922173
|
1.000 |
0.120 |
7 |
94408220 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922175
|
1.000 |
0.120 |
7 |
94409374 |
inframe deletion |
GTG/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72656387
|
0.882 |
0.120 |
7 |
94409367 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658154
|
1.000 |
0.120 |
7 |
94418518 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658193
|
0.925 |
0.120 |
7 |
94423056 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72659305
|
0.925 |
0.120 |
7 |
94425127 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72659319
|
0.763 |
0.240 |
7 |
94426459 |
missense variant |
G/A;C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121912905
|
0.925 |
0.120 |
7 |
94408806 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.020 |
1.000 |
2 |
1991 |
1992 |
rs67865220
|
0.851 |
0.120 |
7 |
94409795 |
missense variant |
G/A;C;T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.020 |
1.000 |
2 |
2016 |
2017 |
rs121912906
|
0.925 |
0.120 |
7 |
94412593 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1991 |
1991 |
rs121912910
|
0.925 |
0.120 |
7 |
94413083 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1994 |
1994 |
rs1310067676
|
1.000 |
0.120 |
7 |
94423024 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs66612022
|
0.763 |
0.240 |
7 |
94409768 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs72656392
|
0.882 |
0.120 |
7 |
94409732 |
missense variant |
G/A;C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1994 |
1994 |
rs72658176
|
0.882 |
0.120 |
7 |
94420604 |
missense variant |
G/A
|
snv
|
4.1E-06
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs72658196
|
1.000 |
0.120 |
7 |
94423092 |
missense variant |
G/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1990 |
1990 |
rs72659306
|
1.000 |
0.120 |
7 |
94425144 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1992 |
1992 |