rs1191056931
|
1.000 |
0.120 |
4 |
39274959 |
splice donor variant |
G/A;C
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1215108056
|
1.000 |
0.120 |
4 |
39224887 |
missense variant |
G/C
|
snv
|
8.3E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553905326
|
1.000 |
0.120 |
4 |
39205592 |
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 |
|
|
rs375644378
|
1.000 |
0.120 |
4 |
39205663 |
missense variant |
A/G
|
snv
|
1.6E-05
|
3.5E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs377160857
|
1.000 |
0.120 |
4 |
39205726 |
missense variant |
G/A
|
snv
|
2.7E-05
|
5.6E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587777352
|
0.925 |
0.120 |
4 |
39273062 |
splice donor variant |
G/A;T
|
snv
|
2.6E-05
|
3.5E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs745603321
|
1.000 |
0.120 |
4 |
39277103 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs747165335
|
0.882 |
0.200 |
4 |
39278156 |
frameshift variant |
ACGG/-
|
delins
|
8.4E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs748656635
|
0.882 |
0.120 |
4 |
39205626 |
frameshift variant |
-/A
|
delins
|
3.6E-05
|
4.2E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs772599282
|
1.000 |
0.120 |
4 |
39244470 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs387906980
|
0.807 |
0.200 |
4 |
39231943 |
missense variant |
T/C
|
snv
|
1.2E-05
|
2.8E-05
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |