rs1206388800
|
1.000 |
0.120 |
7 |
94408342 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.8E-05
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2009 |
rs66716547
|
1.000 |
0.120 |
7 |
94421935 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2009 |
rs66999265
|
1.000 |
0.120 |
7 |
94413111 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2009 |
rs72658187
|
1.000 |
0.120 |
7 |
94421908 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2009 |
rs72658188
|
1.000 |
0.120 |
7 |
94421918 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
15 |
1989 |
2009 |
rs121912902
|
0.925 |
0.120 |
7 |
94424363 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs72658161
|
1.000 |
0.120 |
7 |
94420252 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1994 |
1994 |
rs1114167414
|
0.925 |
0.120 |
7 |
94426433 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66507857
|
1.000 |
0.120 |
7 |
94425777 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs66592844
|
1.000 |
0.120 |
7 |
94421899 |
missense variant |
G/A;C
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67422093
|
1.000 |
0.120 |
7 |
94425999 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72656385
|
1.000 |
0.120 |
7 |
94408789 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658109
|
1.000 |
0.120 |
7 |
94410917 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658114
|
1.000 |
0.120 |
7 |
94411102 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658117
|
1.000 |
0.120 |
7 |
94412077 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658130
|
1.000 |
0.120 |
7 |
94413709 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658136
|
1.000 |
0.120 |
7 |
94413921 |
missense variant |
G/C
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658138
|
1.000 |
0.120 |
7 |
94414240 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658139
|
1.000 |
0.120 |
7 |
94415262 |
missense variant |
G/C
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658141
|
1.000 |
0.120 |
7 |
94416414 |
missense variant |
G/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658145
|
1.000 |
0.120 |
7 |
94417734 |
missense variant |
G/A;C
|
snv
|
4.6E-06
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658148
|
1.000 |
0.120 |
7 |
94417770 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658155
|
1.000 |
0.120 |
7 |
94418536 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658167
|
1.000 |
0.120 |
7 |
94420401 |
missense variant |
G/A
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72658171
|
1.000 |
0.120 |
7 |
94420541 |
missense variant |
G/T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|