rs104893924
|
0.851 |
0.120 |
5 |
149981550 |
missense variant |
T/A
|
snv
|
1.1E-04
|
1.3E-04
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
8 |
2001 |
2012 |
rs104893915
|
0.776 |
0.200 |
5 |
149980428 |
missense variant |
C/T
|
snv
|
9.8E-04
|
1.0E-03
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
14 |
1996 |
2012 |
rs104893918
|
0.851 |
0.120 |
5 |
149981737 |
missense variant |
C/T
|
snv
|
3.6E-05
|
2.8E-05
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
6 |
1996 |
2012 |
rs104893919
|
0.851 |
0.120 |
5 |
149978184 |
stop gained |
C/T
|
snv
|
1.3E-04
|
1.2E-04
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1996 |
2011 |
rs386833497
|
0.851 |
0.120 |
5 |
149981243 |
frameshift variant |
G/-
|
del
|
8.0E-06
|
2.8E-05
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
2001 |
2010 |
rs121908077
|
0.851 |
0.120 |
5 |
149980603 |
inframe insertion |
TGTTGT/-;TGT;TGTTGTTGT
|
delins
|
|
3.5E-05
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1996 |
2004 |
rs104893916
|
0.882 |
0.120 |
5 |
149981626 |
missense variant |
G/T
|
snv
|
4.0E-06
|
2.1E-05
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1996 |
2004 |
rs1419613966
|
1.000 |
0.080 |
5 |
149980360 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs200963884
|
0.925 |
0.120 |
5 |
149980292 |
splice acceptor variant |
G/C
|
snv
|
|
4.9E-05
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1994 |
2011 |
rs386833492
|
0.851 |
0.120 |
5 |
149960981 |
splice donor variant |
T/C
|
snv
|
|
5.4E-04
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1999 |
2010 |
rs766836061
|
0.851 |
0.120 |
5 |
149981300 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1996 |
1996 |
rs1057517461
|
0.851 |
0.120 |
5 |
149978353 |
splice donor variant |
T/C
|
snv
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs1057517513
|
0.851 |
0.120 |
5 |
149981586 |
frameshift variant |
AC/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs386833495
|
0.851 |
0.120 |
5 |
149980984 |
frameshift variant |
T/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs386833499
|
0.851 |
0.120 |
5 |
149981565 |
frameshift variant |
T/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs763198695
|
0.851 |
0.120 |
5 |
149978135 |
frameshift variant |
TG/-
|
delins
|
4.0E-06
|
7.0E-06
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786200881
|
0.851 |
0.120 |
5 |
149978041 |
frameshift variant |
C/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1996 |
1996 |
rs786204675
|
1.000 |
0.080 |
5 |
149978101 |
frameshift variant |
T/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1996 |
1996 |
rs1057517462
|
0.851 |
0.120 |
5 |
149977857 |
frameshift variant |
T/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517471
|
0.851 |
0.120 |
5 |
149980903 |
frameshift variant |
-/T
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517474
|
0.851 |
0.120 |
5 |
149981546 |
frameshift variant |
ACTG/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517482
|
0.851 |
0.120 |
5 |
149981240 |
frameshift variant |
A/-
|
delins
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517483
|
0.851 |
0.120 |
5 |
149978193 |
stop gained |
C/T
|
snv
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517495
|
0.851 |
0.120 |
5 |
149980515 |
frameshift variant |
A/-
|
del
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057517496
|
0.851 |
0.120 |
5 |
149977840 |
frameshift variant |
A/-
|
del
|
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|