rs111033544
|
1.000 |
0.080 |
6 |
116120324 |
missense variant |
A/C
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033545
|
1.000 |
0.080 |
6 |
116120275 |
missense variant |
A/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033546
|
1.000 |
0.080 |
6 |
116120345 |
missense variant |
A/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033549
|
1.000 |
0.080 |
6 |
116120165 |
missense variant |
A/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033550
|
1.000 |
0.080 |
6 |
116125441 |
missense variant |
C/T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033551
|
1.000 |
0.080 |
6 |
116125440 |
missense variant |
C/G;T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033552
|
0.925 |
0.120 |
6 |
116120105 |
missense variant |
A/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033553
|
0.925 |
0.080 |
6 |
116120332 |
missense variant |
C/T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033554
|
1.000 |
0.080 |
6 |
116120326 |
missense variant |
T/C
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033555
|
1.000 |
0.080 |
6 |
116120318 |
missense variant |
A/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1994 |
2005 |
rs111033543
|
1.000 |
0.080 |
6 |
116120232 |
stop gained |
G/C
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs111033547
|
1.000 |
0.080 |
6 |
116120163 |
stop gained |
C/T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs111033548
|
0.925 |
0.080 |
6 |
116120220 |
stop gained |
G/T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs111033556
|
1.000 |
0.080 |
6 |
116120284 |
stop gained |
C/T
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1271742789
|
1.000 |
0.080 |
6 |
116120158 |
missense variant |
T/G
|
snv
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1562122372
|
1.000 |
0.080 |
6 |
116120257 |
frameshift variant |
GG/-
|
delins
|
|
|
Metaphyseal chondrodysplasia Schmid type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|