rs10513551
|
|
|
3 |
160368267 |
intron variant |
G/T
|
snv
|
|
0.53
|
Low density lipoprotein cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs138004478
|
0.882 |
0.120 |
3 |
160356069 |
missense variant |
C/G;T
|
snv
|
6.8E-05
|
|
Majewski Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs138004478
|
0.882 |
0.120 |
3 |
160356069 |
missense variant |
C/G;T
|
snv
|
6.8E-05
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs138004478
|
0.882 |
0.120 |
3 |
160356069 |
missense variant |
C/G;T
|
snv
|
6.8E-05
|
|
Asphyxiating Thoracic Dystrophy 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs138081429
|
1.000 |
0.120 |
3 |
160319848 |
missense variant |
T/C
|
snv
|
1.5E-04
|
1.4E-04
|
Asphyxiating Thoracic Dystrophy 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2009 |
rs137853115
|
1.000 |
0.120 |
3 |
160377485 |
missense variant |
G/C
|
snv
|
|
|
Asphyxiating Thoracic Dystrophy 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs137853116
|
1.000 |
0.120 |
3 |
160268535 |
missense variant |
C/G
|
snv
|
3.2E-05
|
|
Asphyxiating Thoracic Dystrophy 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
1 |
2007 |
2007 |
rs145925847
|
1.000 |
0.040 |
3 |
160337849 |
intron variant |
T/A
|
snv
|
|
7.1E-03
|
Oral Ulcer
|
Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1553753582
|
1.000 |
0.120 |
3 |
160280770 |
missense variant |
G/A
|
snv
|
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553764834
|
1.000 |
0.080 |
3 |
160366102 |
frameshift variant |
AGAA/-
|
delins
|
|
|
Short rib-polydactyly syndrome, Beemer type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs372576954
|
1.000 |
0.120 |
3 |
160357556 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Jeune thoracic dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs431905497
|
1.000 |
0.120 |
3 |
160280683 |
inframe deletion |
AAT/-
|
delins
|
|
|
Asphyxiating Thoracic Dystrophy 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|