rs67865220
|
0.851 |
0.120 |
7 |
94409795 |
missense variant |
G/A;C;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs72659310
|
0.882 |
0.120 |
7 |
94425664 |
splice donor variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
11 |
1984 |
2018 |
rs72658118
|
0.882 |
0.120 |
7 |
94412095 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
10 |
1993 |
2016 |
rs72659319
|
0.763 |
0.240 |
7 |
94426459 |
missense variant |
G/A;C
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
10 |
1993 |
2016 |
rs66619856
|
0.882 |
0.120 |
7 |
94410278 |
missense variant |
G/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1993 |
2018 |
rs66773001
|
0.882 |
0.120 |
7 |
94410251 |
missense variant |
G/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1991 |
2016 |
rs72656387
|
0.882 |
0.120 |
7 |
94409367 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1993 |
2017 |
rs72658185
|
0.925 |
0.120 |
7 |
94421027 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1993 |
2016 |
rs1562905246
|
0.925 |
0.120 |
7 |
94420595 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
7 |
1993 |
2014 |
rs72656355
|
0.882 |
0.200 |
7 |
94401565 |
splice acceptor variant |
A/G
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
7 |
1984 |
2017 |
rs1554396361
|
0.925 |
0.120 |
7 |
94411128 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2011 |
rs1554396679
|
0.925 |
0.120 |
7 |
94413092 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2009 |
rs1554396832
|
0.925 |
0.120 |
7 |
94414222 |
missense variant |
G/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2015 |
rs1554397975
|
0.925 |
0.120 |
7 |
94422994 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2016 |
rs67525025
|
0.882 |
0.120 |
7 |
94408798 |
missense variant |
G/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2009 |
rs72656360
|
0.925 |
0.120 |
7 |
94404849 |
missense variant |
G/A;T
|
snv
|
|
7.0E-06
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2014 |
rs72658177
|
0.882 |
0.120 |
7 |
94420613 |
missense variant |
G/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2009 |
rs72658194
|
0.925 |
0.120 |
7 |
94423074 |
missense variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
1993 |
2009 |
rs1410254723
|
0.925 |
0.120 |
7 |
94404574 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1993 |
2009 |
rs1554395431
|
0.925 |
0.120 |
7 |
94404893 |
splice donor variant |
G/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1984 |
2017 |
rs1554395471
|
0.882 |
0.120 |
7 |
94405197 |
splice acceptor variant |
A/C;G
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1984 |
2017 |
rs1554396271
|
0.925 |
0.120 |
7 |
94410899 |
missense variant |
G/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1993 |
2009 |
rs1554396680
|
0.925 |
0.120 |
7 |
94413093 |
missense variant |
G/C
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1993 |
2009 |
rs1562899031
|
0.925 |
0.120 |
7 |
94404858 |
missense variant |
G/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1993 |
2009 |
rs1562900513
|
0.925 |
0.120 |
7 |
94408780 |
missense variant |
G/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1993 |
2009 |