rs72653170
|
0.752 |
0.240 |
17 |
50188908 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Cortical Congenital Hyperostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.850 |
1.000 |
6 |
2005 |
2014 |
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 |
rs72653178
|
0.925 |
0.120 |
17 |
50188619 |
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 |
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 |
rs66721653
|
1.000 |
|
17 |
50195665 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
1.000 |
12 |
1989 |
2015 |
rs72645331
|
1.000 |
0.120 |
17 |
50196661 |
missense variant |
C/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1988 |
2014 |
rs72645341
|
1.000 |
0.120 |
17 |
50196525 |
stop gained |
C/A;T
|
snv
|
2.0E-05
|
1.4E-05
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1988 |
2014 |
rs72648322
|
1.000 |
|
17 |
50195330 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
1.000 |
12 |
1989 |
2015 |
rs72653169
|
1.000 |
|
17 |
50188920 |
missense variant |
C/T
|
snv
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.800 |
1.000 |
11 |
1989 |
2007 |
rs72654802
|
0.882 |
0.120 |
17 |
50188122 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
14 |
1992 |
2017 |
rs72645362
|
1.000 |
0.120 |
17 |
50195934 |
missense variant |
C/A;T
|
snv
|
2.4E-05
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
12 |
1988 |
2014 |
rs2075555
|
0.807 |
0.240 |
17 |
50196930 |
intron variant |
T/A;G
|
snv
|
|
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
0.500 |
2 |
2007 |
2011 |
rs2075555
|
0.807 |
0.240 |
17 |
50196930 |
intron variant |
T/A;G
|
snv
|
|
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.710 |
0.500 |
2 |
2007 |
2011 |
rs67445413
|
0.925 |
0.120 |
17 |
50189876 |
missense variant |
C/A;T
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
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 |
rs116794104
|
1.000 |
0.120 |
17 |
50195466 |
missense variant |
C/T
|
snv
|
1.0E-03
|
4.2E-03
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
20 |
1986 |
2015 |
rs1555573789
|
|
|
17 |
50194591 |
frameshift variant |
AT/-
|
del
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1957 |
2017 |
rs1555575085
|
1.000 |
|
17 |
50199309 |
missense variant |
C/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
20 |
1957 |
2017 |
rs1555575085
|
1.000 |
|
17 |
50199309 |
missense variant |
C/A
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1957 |
2017 |
rs57377812
|
1.000 |
0.120 |
17 |
50194756 |
missense variant |
C/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 |
20 |
1986 |
2015 |
rs66929517
|
0.925 |
0.120 |
17 |
50190334 |
missense variant |
C/A;G
|
snv
|
|
|
Osteogenesis imperfecta, dominant perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
20 |
1986 |
2015 |
rs66948146
|
1.000 |
0.120 |
17 |
50186894 |
missense variant |
C/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 |
20 |
1986 |
2015 |
rs67067133
|
1.000 |
0.120 |
17 |
50190062 |
missense variant |
C/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 |
20 |
1986 |
2015 |
rs67507747
|
0.827 |
0.160 |
17 |
50194032 |
missense variant |
C/A;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 |
20 |
1986 |
2015 |
rs67771061
|
0.925 |
0.120 |
17 |
50188776 |
missense variant |
C/A;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 |
20 |
1986 |
2015 |