rs1555574553
|
1.000 |
0.120 |
17 |
50197198 |
frameshift variant |
-/G
|
ins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567756357
|
1.000 |
0.120 |
17 |
50190353 |
frameshift variant |
-/CG
|
ins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555573789
|
|
|
17 |
50194591 |
frameshift variant |
AT/-
|
del
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1957 |
2017 |
rs72645370
|
1.000 |
0.120 |
17 |
50195594 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
1996 |
2017 |
rs1114167380
|
1.000 |
0.120 |
17 |
50190010 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167406
|
1.000 |
0.120 |
17 |
50185511 |
frameshift variant |
G/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1260429820
|
1.000 |
0.120 |
17 |
50187885 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs72651634
|
1.000 |
0.120 |
17 |
50191998 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs72651640
|
1.000 |
0.120 |
17 |
50191842 |
frameshift variant |
A/-
|
del
|
4.3E-06
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs72667023
|
0.925 |
0.120 |
17 |
50198170 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs886042286
|
1.000 |
0.120 |
17 |
50186887 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555571916
|
1.000 |
0.120 |
17 |
50187051 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555573004
|
1.000 |
0.120 |
17 |
50191401 |
frameshift variant |
T/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555573039
|
1.000 |
0.120 |
17 |
50191479 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555574638
|
1.000 |
0.120 |
17 |
50197750 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555575086
|
1.000 |
0.120 |
17 |
50199310 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567751388
|
1.000 |
0.120 |
17 |
50185558 |
frameshift variant |
C/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567752926
|
1.000 |
0.120 |
17 |
50186813 |
frameshift variant |
C/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567757138
|
1.000 |
0.120 |
17 |
50191446 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567757138
|
1.000 |
0.120 |
17 |
50191446 |
frameshift variant |
A/-
|
del
|
|
|
Blue sclera
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs1567760123
|
1.000 |
0.120 |
17 |
50194788 |
frameshift variant |
T/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567761950
|
1.000 |
0.120 |
17 |
50196627 |
frameshift variant |
GCAGGACC/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922143
|
1.000 |
0.120 |
17 |
50193003 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922148
|
1.000 |
0.120 |
17 |
50190360 |
frameshift variant |
A/-
|
del
|
|
|
Osteogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs193922151
|
0.925 |
0.120 |
17 |
50189521 |
frameshift variant |
A/-
|
del
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|