rs121917817
|
1.000 |
0.160 |
5 |
177607445 |
missense variant |
C/A
|
snv
|
1.6E-05
|
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs121917818
|
1.000 |
0.160 |
5 |
177607505 |
missense variant |
T/C
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs1401907822
|
1.000 |
0.040 |
5 |
177608566 |
missense variant |
G/A
|
snv
|
|
|
Glaucoma
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs879255634
|
1.000 |
0.160 |
5 |
177604401 |
frameshift variant |
CCC/-;CC;CCCC
|
delins
|
|
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs375845310
|
1.000 |
0.160 |
5 |
177604250 |
missense variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs753594601
|
1.000 |
0.160 |
5 |
177608540 |
missense variant |
G/A
|
snv
|
3.2E-05
|
1.4E-05
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs187063864
|
1.000 |
0.160 |
5 |
177607309 |
missense variant |
C/T
|
snv
|
3.3E-05
|
4.9E-05
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28937869
|
0.851 |
0.200 |
5 |
177608994 |
missense variant |
C/T
|
snv
|
4.8E-05
|
9.1E-05
|
Ehlers-Danlos Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs28937869
|
0.851 |
0.200 |
5 |
177608994 |
missense variant |
C/T
|
snv
|
4.8E-05
|
9.1E-05
|
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28937869
|
0.851 |
0.200 |
5 |
177608994 |
missense variant |
C/T
|
snv
|
4.8E-05
|
9.1E-05
|
Lethal skeletal dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs28937869
|
0.851 |
0.200 |
5 |
177608994 |
missense variant |
C/T
|
snv
|
4.8E-05
|
9.1E-05
|
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
|
|
0.700 |
|
0 |
|
|
rs729460
|
|
|
5 |
177609230 |
intron variant |
T/C
|
snv
|
|
0.43
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |