rs1057519321
|
0.807 |
0.160 |
5 |
128349391 |
missense variant |
C/A;T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060503498
|
1.000 |
0.080 |
5 |
128332911 |
splice donor variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060503510
|
1.000 |
0.080 |
5 |
128330612 |
missense variant |
A/G
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060503511
|
1.000 |
0.080 |
5 |
128330633 |
missense variant |
G/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs138303817
|
1.000 |
0.080 |
5 |
128338081 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554122802
|
0.742 |
0.160 |
5 |
128335170 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554122897
|
1.000 |
0.080 |
5 |
128335994 |
missense variant |
A/C
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554123139
|
1.000 |
0.080 |
5 |
128338941 |
inframe deletion |
TTC/-
|
delins
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1561461125
|
1.000 |
0.080 |
5 |
128446608 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1561758622
|
1.000 |
0.080 |
5 |
128302968 |
splice region variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776519
|
1.000 |
0.080 |
5 |
128335592 |
intron variant |
T/C
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs863223567
|
1.000 |
0.080 |
5 |
128338002 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs869025428
|
1.000 |
0.080 |
5 |
128339061 |
missense variant |
T/A
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1206843725
|
1.000 |
0.080 |
5 |
128338938 |
missense variant |
C/A
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
14 |
1973 |
2016 |
rs137852825
|
1.000 |
0.080 |
5 |
128335544 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs137852826
|
1.000 |
0.080 |
5 |
128395182 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs137852827
|
1.000 |
0.080 |
5 |
128344385 |
missense variant |
C/G
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs137852828
|
1.000 |
0.080 |
5 |
128338980 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs1554123065
|
1.000 |
0.080 |
5 |
128338114 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
10 |
1995 |
2016 |
rs28931602
|
1.000 |
0.080 |
5 |
128335543 |
missense variant |
A/C
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs794727560
|
1.000 |
0.080 |
5 |
128332983 |
missense variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
10 |
1995 |
2016 |
rs145259927
|
1.000 |
0.080 |
5 |
128366419 |
missense variant |
C/T
|
snv
|
1.5E-03
|
1.4E-03
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2016 |
rs1085307066
|
1.000 |
0.080 |
5 |
128274648 |
stop gained |
G/A
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2001 |
2002 |
rs1554123136
|
1.000 |
0.080 |
5 |
128338932 |
splice donor variant |
C/T
|
snv
|
|
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs201988564
|
0.925 |
0.240 |
5 |
128464739 |
missense variant |
T/G
|
snv
|
1.2E-05
|
2.1E-05
|
Congenital contractural arachnodactyly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |