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 |
rs1114167391
|
1.000 |
0.120 |
17 |
50190354 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1114167405
|
1.000 |
0.120 |
17 |
50185564 |
frameshift variant |
-/G;GGGG
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
1990 |
2015 |
rs72667016
|
1.000 |
0.120 |
17 |
50199265 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1114167374
|
1.000 |
0.120 |
17 |
50195262 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167375
|
1.000 |
0.120 |
17 |
50195239 |
frameshift variant |
C/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167377
|
1.000 |
0.120 |
17 |
50194803 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167379
|
1.000 |
0.120 |
17 |
50190011 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
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 |
rs1114167381
|
1.000 |
0.120 |
17 |
50189224 |
frameshift variant |
C/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167384
|
1.000 |
0.120 |
17 |
50199934 |
frameshift variant |
ATTGGTG/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167385
|
1.000 |
0.120 |
17 |
50195270 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167387
|
1.000 |
0.120 |
17 |
50194352 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167389
|
1.000 |
0.120 |
17 |
50191823 |
frameshift variant |
TC/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167392
|
1.000 |
0.120 |
17 |
50190035 |
frameshift variant |
C/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167395
|
1.000 |
0.120 |
17 |
50189171 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167396
|
1.000 |
0.120 |
17 |
50188922 |
frameshift variant |
G/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167398
|
1.000 |
0.120 |
17 |
50188121 |
frameshift variant |
CGAC/-
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167400
|
1.000 |
0.120 |
17 |
50186701 |
frameshift variant |
-/GCCCT
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1114167401
|
1.000 |
0.120 |
17 |
50186666 |
frameshift variant |
T/-
|
delins
|
|
|
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 |
rs1114167407
|
1.000 |
0.120 |
17 |
50199238 |
frameshift variant |
-/G
|
delins
|
8.6E-05
|
|
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 |
rs1555571529
|
1.000 |
0.120 |
17 |
50185569 |
frameshift variant |
-/CCACATC
|
delins
|
|
|
Lobstein Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
1990 |
1990 |