rs587779670
|
1.000 |
0.160 |
2 |
188992877 |
intron variant |
A/C;G
|
snv
|
4.0E-06
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779701
|
1.000 |
0.160 |
2 |
188995036 |
intron variant |
T/G
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518075
|
1.000 |
0.040 |
2 |
188995061 |
stop gained |
C/T
|
snv
|
|
|
Aortic Aneurysm, Abdominal
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1559060412
|
1.000 |
0.160 |
2 |
189003426 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057521106
|
1.000 |
0.160 |
2 |
188991016 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500187
|
1.000 |
0.160 |
2 |
189010187 |
stop gained |
G/A
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs112371422
|
1.000 |
0.160 |
2 |
189007569 |
stop gained |
C/G;T
|
snv
|
8.0E-05
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553510000
|
1.000 |
0.160 |
2 |
189011640 |
stop gained |
G/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559052609
|
1.000 |
0.160 |
2 |
188984814 |
stop gained |
G/A
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs375737772
|
1.000 |
0.160 |
2 |
188996419 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779467
|
1.000 |
0.160 |
2 |
189010201 |
stop gained |
C/G;T
|
snv
|
8.0E-06
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779479
|
1.000 |
0.160 |
2 |
189006236 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779488
|
1.000 |
0.160 |
2 |
189005353 |
stop gained |
G/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779527
|
1.000 |
0.160 |
2 |
188997189 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779585
|
1.000 |
0.160 |
2 |
189011667 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779607
|
1.000 |
0.160 |
2 |
188992208 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779646
|
1.000 |
0.160 |
2 |
189008113 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587779677
|
1.000 |
0.160 |
2 |
188974519 |
stop gained |
G/A
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs794728060
|
1.000 |
0.160 |
2 |
189010723 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863224860
|
0.925 |
0.160 |
2 |
189010732 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863224860
|
0.925 |
0.160 |
2 |
189010732 |
stop gained |
C/T
|
snv
|
|
|
Ehlers-Danlos syndrome, type 3 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121912926
|
1.000 |
0.160 |
2 |
188988099 |
missense variant |
G/A;C;T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1989 |
2017 |
rs587779427
|
1.000 |
0.160 |
2 |
188991005 |
missense variant |
G/T
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1989 |
2017 |
rs587779489
|
1.000 |
0.160 |
2 |
188994577 |
missense variant |
G/A;C
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1989 |
2017 |
rs587779584
|
1.000 |
0.160 |
2 |
188996134 |
missense variant |
G/A
|
snv
|
|
|
Ehlers-Danlos Syndrome, Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1989 |
2017 |