rs1193507525
|
0.925 |
0.080 |
12 |
47980616 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121912893
|
0.708 |
0.400 |
12 |
47983721 |
stop gained |
G/A;T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555164872
|
1.000 |
0.080 |
12 |
47975961 |
splice acceptor variant |
ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/-
|
del
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555167783
|
1.000 |
0.080 |
12 |
47989236 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1565664095
|
1.000 |
0.080 |
12 |
47973418 |
missense variant |
A/G
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1565679062
|
1.000 |
0.080 |
12 |
47983410 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs794727261
|
0.716 |
0.400 |
12 |
47999953 |
stop gained |
G/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1215825701
|
1.000 |
0.080 |
12 |
47978605 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
1995 |
1995 |
rs121912867
|
0.925 |
0.080 |
12 |
47982142 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1989 |
2001 |
rs121912870
|
1.000 |
0.080 |
12 |
47975971 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912874
|
0.716 |
0.400 |
12 |
47978329 |
missense variant |
G/A
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912879
|
0.925 |
0.080 |
12 |
47980017 |
missense variant |
C/G
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1989 |
2001 |
rs121912883
|
1.000 |
0.080 |
12 |
47976043 |
missense variant |
C/G
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912886
|
0.925 |
0.080 |
12 |
47974090 |
missense variant |
G/A;T
|
snv
|
8.0E-05
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912880
|
0.882 |
0.080 |
12 |
47986353 |
missense variant |
C/A;T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.020 |
1.000 |
2 |
2008 |
2008 |
rs886044555
|
0.925 |
0.080 |
12 |
47985772 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs864621973
|
1.000 |
0.080 |
12 |
47977128 |
stop gained |
C/A;T
|
snv
|
4.1E-06
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |