rs137852650
|
1.000 |
0.080 |
19 |
18786040 |
missense variant |
C/A
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
13 |
1995 |
2012 |
rs137852655
|
0.925 |
0.080 |
19 |
18783125 |
missense variant |
C/T
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.810 |
1.000 |
13 |
1995 |
2012 |
rs1359984033
|
1.000 |
0.080 |
19 |
18785789 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1995 |
2012 |
rs137852651
|
1.000 |
0.080 |
19 |
18786051 |
missense variant |
C/T
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1995 |
2012 |
rs137852653
|
1.000 |
0.080 |
19 |
18787644 |
missense variant |
A/G
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1995 |
2012 |
rs137852656
|
1.000 |
0.080 |
19 |
18787584 |
missense variant |
A/G
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1995 |
2012 |
rs1057521130
|
1.000 |
0.080 |
19 |
18787514 |
missense variant |
C/T
|
snv
|
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2012 |
rs137852652
|
0.925 |
0.080 |
19 |
18787602 |
missense variant |
C/A
|
snv
|
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2012 |
rs137852654
|
1.000 |
0.080 |
19 |
18785772 |
missense variant |
G/C;T
|
snv
|
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
9 |
1995 |
2012 |
rs149551600
|
1.000 |
0.080 |
19 |
18783128 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2012 |
rs1555791425
|
1.000 |
0.080 |
19 |
18785839 |
missense variant |
C/T
|
snv
|
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2012 |
rs28936368
|
0.882 |
0.080 |
19 |
18783129 |
missense variant |
G/A;T
|
snv
|
8.6E-04
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
9 |
1995 |
2012 |
rs763887855
|
1.000 |
0.080 |
19 |
18789188 |
missense variant |
C/T
|
snv
|
9.7E-06
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1995 |
2012 |
rs1568554988
|
1.000 |
0.080 |
19 |
18786281 |
missense variant |
T/G
|
snv
|
|
|
Epiphyseal dysplasia, multiple, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1995 |
2016 |
rs766335907
|
0.851 |
0.200 |
19 |
18787632 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Congenital clubfoot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.020 |
1.000 |
2 |
2001 |
2003 |
rs766335907
|
0.851 |
0.200 |
19 |
18787632 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Multiple Epiphyseal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.020 |
0.500 |
2 |
1999 |
2001 |
rs142274526
|
1.000 |
0.080 |
19 |
18787572 |
missense variant |
G/A;C
|
snv
|
2.8E-05;
4.0E-06
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs28936368
|
0.882 |
0.080 |
19 |
18783129 |
missense variant |
G/A;T
|
snv
|
8.6E-04
|
|
Multiple Epiphyseal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs28936368
|
0.882 |
0.080 |
19 |
18783129 |
missense variant |
G/A;T
|
snv
|
8.6E-04
|
|
Degenerative polyarthritis
|
Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs312262901
|
1.000 |
0.080 |
19 |
18785050 |
missense variant |
T/C
|
snv
|
|
|
Pseudoachondroplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs763098832
|
0.882 |
0.120 |
19 |
18783189 |
missense variant |
G/C;T
|
snv
|
4.1E-06
|
|
Congenital Dysplasia Of The Hip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs763098832
|
0.882 |
0.120 |
19 |
18783189 |
missense variant |
G/C;T
|
snv
|
4.1E-06
|
|
Hip Dysplasia
|
Musculoskeletal Diseases; Wounds and Injuries
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs763098832
|
0.882 |
0.120 |
19 |
18783189 |
missense variant |
G/C;T
|
snv
|
4.1E-06
|
|
Degenerative polyarthritis
|
Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs766335907
|
0.851 |
0.200 |
19 |
18787632 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Acquired clubfoot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs766335907
|
0.851 |
0.200 |
19 |
18787632 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Diastrophic dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |