rs28931614
|
0.672 |
0.520 |
4 |
1804392 |
missense variant |
G/A;C
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.780 |
1.000 |
8 |
1995 |
2020 |
rs121913105
|
0.653 |
0.600 |
4 |
1806163 |
missense variant |
A/C;T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.720 |
1.000 |
2 |
2008 |
2018 |
rs121913115
|
1.000 |
0.120 |
4 |
1801928 |
missense variant |
A/G
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2013 |
2013 |
rs121913116
|
0.763 |
0.360 |
4 |
1799395 |
missense variant |
C/T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs267606808
|
0.882 |
0.120 |
4 |
1805396 |
missense variant |
A/G
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs121913482
|
0.630 |
0.680 |
4 |
1801837 |
missense variant |
C/T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778769
|
1.000 |
0.120 |
4 |
1799488 |
missense variant |
A/T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778775
|
1.000 |
0.120 |
4 |
1803785 |
missense variant |
G/A;T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778801
|
1.000 |
0.120 |
4 |
1801518 |
synonymous variant |
C/T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778811
|
1.000 |
0.120 |
4 |
1801896 |
synonymous variant |
G/T
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778816
|
1.000 |
0.120 |
4 |
1803731 |
missense variant |
C/A;G
|
snv
|
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778817
|
1.000 |
0.120 |
4 |
1803744 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1211533350
|
0.827 |
0.120 |
4 |
1805638 |
synonymous variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.070 |
1.000 |
7 |
1998 |
2018 |
rs77722678
|
1.000 |
0.120 |
4 |
1805643 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2000 |
2000 |
rs121913114
|
0.925 |
0.120 |
4 |
1801930 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs78311289
|
0.689 |
0.440 |
4 |
1806162 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2011 |
2011 |
rs28928868
|
0.925 |
0.120 |
4 |
1806164 |
missense variant |
G/C;T
|
snv
|
4.0E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587778773
|
1.000 |
0.120 |
4 |
1801886 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs4647924
|
0.600 |
0.520 |
4 |
1801844 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121913483
|
0.649 |
0.560 |
4 |
1801841 |
missense variant |
C/A;G;T
|
snv
|
4.2E-06;
1.3E-05
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80053154
|
0.925 |
0.120 |
4 |
1805636 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.730 |
1.000 |
3 |
1998 |
2017 |
rs587778776
|
1.000 |
0.120 |
4 |
1804396 |
missense variant |
T/A;G
|
snv
|
1.2E-05
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs28933068
|
0.645 |
0.560 |
4 |
1805644 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05
|
|
Hypochondroplasia (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
0.962 |
26 |
1996 |
2020 |