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 |
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 |
rs67507747
|
0.827 |
0.160 |
17 |
50194032 |
missense variant |
C/A;G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1993 |
2017 |
rs72645323
|
0.925 |
0.120 |
17 |
50197027 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72645324
|
1.000 |
0.120 |
17 |
50197026 |
missense variant |
C/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72645325
|
1.000 |
0.120 |
17 |
50197017 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72645340
|
1.000 |
0.120 |
17 |
50196528 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72645353
|
1.000 |
0.120 |
17 |
50196198 |
missense variant |
C/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72648359
|
1.000 |
0.120 |
17 |
50194134 |
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 |
12 |
1988 |
2014 |
rs72651627
|
1.000 |
0.120 |
17 |
50192519 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72651647
|
0.925 |
0.120 |
17 |
50191454 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72656323
|
1.000 |
0.120 |
17 |
50187076 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72656334
|
1.000 |
0.120 |
17 |
50186871 |
missense variant |
C/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs72656339
|
1.000 |
0.120 |
17 |
50186797 |
missense variant |
A/C
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1988 |
2014 |
rs67693970
|
0.882 |
0.120 |
17 |
50190099 |
missense variant |
C/G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
11 |
1993 |
2016 |
rs72645321
|
0.925 |
0.120 |
17 |
50197045 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
11 |
1993 |
2015 |
rs66490707
|
0.790 |
0.240 |
17 |
50195231 |
splice donor variant |
C/G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
10 |
1994 |
2017 |
rs1555572640
|
1.000 |
0.120 |
17 |
50190026 |
missense variant |
C/G
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1988 |
2016 |
rs66555264
|
0.790 |
0.240 |
17 |
50192993 |
splice donor variant |
C/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1993 |
2015 |
rs72645357
|
0.776 |
0.240 |
17 |
50196163 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1991 |
2015 |
rs72645368
|
1.000 |
0.120 |
17 |
50195611 |
missense variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1993 |
2015 |
rs72667031
|
0.925 |
0.120 |
17 |
50197983 |
missense variant |
C/A
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1993 |
2009 |
rs67163049
|
1.000 |
0.120 |
17 |
50197234 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
7 |
1994 |
2016 |