rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.850 |
1.000 |
5 |
1999 |
2018 |
rs121913116
|
0.763 |
0.360 |
4 |
1799395 |
missense variant |
C/T
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs587779383
|
0.851 |
0.120 |
4 |
1806157 |
missense variant |
A/C;G;T
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs78311289
|
0.689 |
0.440 |
4 |
1806162 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs28931614
|
0.672 |
0.520 |
4 |
1804392 |
missense variant |
G/A;C
|
snv
|
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs28933068
|
0.645 |
0.560 |
4 |
1805644 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs4647924
|
0.600 |
0.520 |
4 |
1801844 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|