rs74315111
|
1.000 |
0.120 |
17 |
50188579 |
inframe insertion |
AGCACCAGG/-;AGCACCAGGAGCACCAGG
|
delins
|
|
|
Osteogenesis imperfecta, recessive perinatal lethal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1114167409
|
1.000 |
0.120 |
17 |
50201444 |
inframe deletion |
TTGGCC/-
|
delins
|
|
|
Osteogenesis imperfecta type III (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs72651618
|
1.000 |
|
17 |
50192825 |
inframe deletion |
GCC/-
|
del
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
|
0.700 |
|
0 |
|
|
rs1555575889
|
1.000 |
0.120 |
17 |
50201513 |
start lost |
T/C
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2013 |
2016 |
rs1567766329
|
1.000 |
0.120 |
17 |
50201511 |
start lost |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2013 |
2016 |
rs1567766338
|
1.000 |
0.120 |
17 |
50201512 |
start lost |
A/G
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2013 |
2016 |
rs193922139
|
0.925 |
0.120 |
17 |
50195227 |
splice region variant |
C/T
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs370865189
|
1.000 |
0.120 |
17 |
50187128 |
splice region variant |
G/A;C;T
|
snv
|
4.5E-06;
6.6E-04
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs193922139
|
0.925 |
0.120 |
17 |
50195227 |
splice region variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs67163049
|
1.000 |
0.120 |
17 |
50197234 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
7 |
1994 |
2016 |
rs1555574177
|
1.000 |
0.120 |
17 |
50195666 |
splice acceptor variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1994 |
2016 |
rs67543897
|
1.000 |
0.120 |
17 |
50191491 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1994 |
2011 |
rs1555573288
|
1.000 |
0.120 |
17 |
50192529 |
splice acceptor variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1994 |
2015 |
rs1567756567
|
1.000 |
0.120 |
17 |
50190597 |
splice acceptor variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1994 |
2015 |
rs111594467
|
1.000 |
0.120 |
17 |
50189276 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1994 |
1998 |
rs1555574516
|
1.000 |
0.120 |
17 |
50197064 |
splice acceptor variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1994 |
1998 |
rs193922158
|
0.925 |
0.120 |
17 |
50197065 |
splice acceptor variant |
T/C
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1994 |
1998 |
rs72648352
|
1.000 |
0.120 |
17 |
50194448 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1994 |
1998 |
rs1114167394
|
1.000 |
0.120 |
17 |
50189539 |
splice acceptor variant |
C/T
|
snv
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs193922147
|
1.000 |
0.120 |
17 |
50190381 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922154
|
1.000 |
0.120 |
17 |
50199589 |
splice acceptor variant |
CT/-
|
delins
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922155
|
1.000 |
0.120 |
17 |
50199329 |
splice acceptor variant |
T/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922158
|
0.925 |
0.120 |
17 |
50197065 |
splice acceptor variant |
T/C
|
snv
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs72667019
|
1.000 |
0.160 |
17 |
50198506 |
splice acceptor variant |
T/A;C
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs72667020
|
1.000 |
0.160 |
17 |
50198505 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|