rs587779520
|
1.000 |
0.160 |
2 |
188994037 |
splice acceptor variant |
G/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
|
0.700 |
|
0 |
|
|
rs587779612
|
1.000 |
0.160 |
2 |
188994037 |
splice acceptor variant |
GGGCCCTCCTGGGATTAA/CCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
|
delins
|
|
|
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 |
|
|
rs1553507863
|
1.000 |
0.160 |
2 |
188994061 |
frameshift variant |
T/-
|
del
|
|
|
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 |
2017 |
2017 |
rs1553507867
|
0.925 |
0.040 |
2 |
188994066 |
missense variant |
G/A
|
snv
|
|
|
Aneurysm
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553507867
|
0.925 |
0.040 |
2 |
188994066 |
missense variant |
G/A
|
snv
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
|
0 |
|
|
rs587779430
|
1.000 |
0.160 |
2 |
188994075 |
splice donor variant |
GAAATGGTAAGCTGTCCCCACTCCTCAGC/-
|
delins
|
|
|
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 |
|
|
rs587779459
|
1.000 |
0.160 |
2 |
188994083 |
splice donor 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
|
0.700 |
|
0 |
|
|
rs1060500194
|
1.000 |
0.160 |
2 |
188994235 |
missense variant |
G/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
|
0.700 |
1.000 |
5 |
1993 |
2015 |
rs587779534
|
1.000 |
0.160 |
2 |
188994270 |
missense variant |
G/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
|
0.700 |
|
0 |
|
|
rs587779485
|
1.000 |
0.160 |
2 |
188994279 |
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
|
0.700 |
|
0 |
|
|
rs794728044
|
1.000 |
0.160 |
2 |
188994280 |
missense variant |
G/A;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 |
|
|
rs587779637
|
1.000 |
0.160 |
2 |
188994288 |
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 |
26 |
1989 |
2017 |
rs587779692
|
0.925 |
0.240 |
2 |
188994297 |
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
|
0.700 |
1.000 |
6 |
1993 |
2015 |
rs587779692
|
0.925 |
0.240 |
2 |
188994297 |
missense variant |
G/A
|
snv
|
|
|
Colorectal Carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs587779631
|
1.000 |
0.160 |
2 |
188994306 |
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
|
0.700 |
|
0 |
|
|
rs587779586
|
1.000 |
0.160 |
2 |
188994307 |
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
|
0.700 |
|
0 |
|
|
rs587779496
|
1.000 |
0.160 |
2 |
188994538 |
splice region 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 |
|
|
rs1060500204
|
1.000 |
0.160 |
2 |
188994540 |
splice acceptor variant |
G/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
|
0.700 |
|
0 |
|
|
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 |
rs397509370
|
1.000 |
0.160 |
2 |
188994595 |
splice donor variant |
G/A;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 |
4 |
1990 |
2016 |
rs587779453
|
1.000 |
0.160 |
2 |
188994597 |
splice region variant |
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
|
0.700 |
|
0 |
|
|
rs587779721
|
1.000 |
0.160 |
2 |
188994599 |
splice region variant |
G/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
|
0.700 |
|
0 |
|
|
rs1559056438
|
0.925 |
0.200 |
2 |
188994727 |
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
|
0.700 |
|
0 |
|
|
rs1559056438
|
0.925 |
0.200 |
2 |
188994727 |
missense variant |
G/A
|
snv
|
|
|
Perforation of colon
|
Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs587779621
|
1.000 |
0.160 |
2 |
188994734 |
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
|
0.700 |
|
0 |
|
|