rs78311289
|
0.689 |
0.440 |
4 |
1806162 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.060 |
1.000 |
6 |
1995 |
2013 |
rs121913103
|
0.925 |
0.080 |
4 |
1807262 |
stop gained |
A/C;G;T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1995 |
2007 |
rs587779383
|
0.851 |
0.120 |
4 |
1806157 |
missense variant |
A/C;G;T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.020 |
1.000 |
2 |
2000 |
2016 |
rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.840 |
1.000 |
10 |
1995 |
2016 |
rs121913485
|
0.716 |
0.400 |
4 |
1804372 |
missense variant |
A/G
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.820 |
1.000 |
8 |
1995 |
2008 |
rs267606808
|
0.882 |
0.120 |
4 |
1805396 |
missense variant |
A/G
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121913484
|
0.851 |
0.240 |
4 |
1804365 |
missense variant |
A/T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
6 |
1995 |
1999 |
rs1211533350
|
0.827 |
0.120 |
4 |
1805638 |
synonymous variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
7 |
1995 |
2016 |
rs28933068
|
0.645 |
0.560 |
4 |
1805644 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
1 |
2009 |
2009 |
rs4647924
|
0.600 |
0.520 |
4 |
1801844 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
4.2E-06
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.830 |
0.889 |
9 |
1995 |
2011 |
rs121913116
|
0.763 |
0.360 |
4 |
1799395 |
missense variant |
C/T
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs28931614
|
0.672 |
0.520 |
4 |
1804392 |
missense variant |
G/A;C
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.720 |
1.000 |
2 |
1996 |
2002 |
rs121913479
|
0.763 |
0.280 |
4 |
1804362 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
6 |
1995 |
1999 |
rs121913101
|
0.882 |
0.080 |
4 |
1807260 |
stop lost |
T/A;C;G
|
snv
|
|
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.720 |
1.000 |
2 |
2017 |
2019 |