rs137853027
|
0.827 |
0.120 |
11 |
103220720 |
missense variant |
A/G
|
snv
|
2.4E-04
|
2.6E-04
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2009 |
2018 |
rs397514637
|
0.925 |
0.120 |
11 |
103117852 |
missense variant |
C/T
|
snv
|
3.2E-05
|
1.4E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2012 |
2018 |
rs1555096711
|
1.000 |
0.120 |
11 |
103307833 |
splice donor variant |
T/A
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1565371538
|
1.000 |
0.120 |
11 |
103179234 |
splice donor variant |
G/A
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs181011657
|
0.882 |
0.120 |
11 |
103257719 |
stop gained |
C/T
|
snv
|
6.8E-05
|
1.4E-04
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1178331074
|
0.925 |
0.120 |
11 |
103129005 |
splice region variant |
G/A
|
snv
|
4.2E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1196317554
|
1.000 |
0.120 |
11 |
103199400 |
missense variant |
T/C
|
snv
|
8.1E-06
|
5.6E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1218198013
|
1.000 |
0.120 |
11 |
103236479 |
frameshift variant |
AAAAG/-
|
delins
|
4.0E-06
|
1.4E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1223907858
|
1.000 |
0.120 |
11 |
103121029 |
frameshift variant |
TTAA/-
|
delins
|
|
2.8E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1260978141
|
1.000 |
0.120 |
11 |
103125293 |
stop gained |
C/T
|
snv
|
4.5E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1309577378
|
1.000 |
0.120 |
11 |
103135524 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1350329646
|
0.925 |
0.120 |
11 |
103192150 |
missense variant |
C/A;T
|
snv
|
5.1E-06;
5.1E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137853031
|
0.925 |
0.120 |
11 |
103185032 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1380132788
|
1.000 |
0.120 |
11 |
103177605 |
frameshift variant |
T/-
|
delins
|
|
7.0E-06
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555038664
|
1.000 |
0.120 |
11 |
103120693 |
frameshift variant |
TGGAAAGCTG/-
|
delins
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555042801
|
1.000 |
0.120 |
11 |
103133640 |
frameshift variant |
-/T
|
delins
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555043520
|
0.925 |
0.120 |
11 |
103135630 |
missense variant |
T/G
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555049536
|
1.000 |
0.120 |
11 |
103152284 |
frameshift variant |
A/-
|
del
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555051720
|
0.925 |
0.120 |
11 |
103158709 |
inframe insertion |
-/GTCACAACA
|
delins
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555052497
|
1.000 |
0.120 |
11 |
103160931 |
splice acceptor variant |
G/C
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555052511
|
1.000 |
0.120 |
11 |
103160971 |
missense variant |
T/C
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555053115
|
1.000 |
0.120 |
11 |
103163089 |
missense variant |
G/A
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555056464
|
1.000 |
0.120 |
11 |
103174108 |
frameshift variant |
C/-
|
del
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555057838
|
1.000 |
0.120 |
11 |
103179047 |
missense variant |
G/C
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555068270
|
1.000 |
0.120 |
11 |
103203777 |
splice donor variant |
G/A
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|