rs1555574303
|
0.790 |
0.240 |
17 |
50196172 |
missense variant |
C/G
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs66490707
|
0.790 |
0.240 |
17 |
50195231 |
splice donor variant |
C/G;T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs66555264
|
0.790 |
0.240 |
17 |
50192993 |
splice donor variant |
C/A;T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs67879854
|
0.790 |
0.240 |
17 |
50190578 |
missense variant |
C/A;T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72645357
|
0.776 |
0.240 |
17 |
50196163 |
missense variant |
C/T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72648326
|
0.790 |
0.240 |
17 |
50195288 |
stop gained |
G/A
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72651642
|
0.790 |
0.240 |
17 |
50191826 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72653170
|
0.752 |
0.240 |
17 |
50188908 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72667019
|
1.000 |
0.160 |
17 |
50198506 |
splice acceptor variant |
T/A;C
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72667020
|
1.000 |
0.160 |
17 |
50198505 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72667022
|
1.000 |
0.160 |
17 |
50198433 |
missense variant |
C/T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|