rs119103234
|
1.000 |
0.120 |
11 |
22250793 |
missense variant |
T/C;G
|
snv
|
|
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
1 |
2004 |
2004 |
rs137854529
|
0.882 |
0.200 |
11 |
22274605 |
missense variant |
C/T
|
snv
|
5.8E-04
|
4.8E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
2010 |
2016 |
rs137854523
|
0.851 |
0.240 |
11 |
22236206 |
missense variant |
G/T
|
snv
|
1.0E-03
|
9.6E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2010 |
2015 |
rs201725369
|
0.925 |
0.160 |
11 |
22218279 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.0E-04
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2010 |
2016 |
rs137854526
|
1.000 |
0.120 |
11 |
22262231 |
missense variant |
T/C
|
snv
|
2.0E-04
|
1.0E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
2010 |
2015 |
rs137854529
|
0.882 |
0.200 |
11 |
22274605 |
missense variant |
C/T
|
snv
|
5.8E-04
|
4.8E-04
|
Miyoshi Muscular Dystrophy 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2012 |
rs11026407
|
|
|
11 |
22083484 |
intron variant |
C/A
|
snv
|
|
0.54
|
Thyroid stimulating hormone measurement
|
|
0.800 |
1.000 |
1 |
2014 |
2014 |
rs137854529
|
0.882 |
0.200 |
11 |
22274605 |
missense variant |
C/T
|
snv
|
5.8E-04
|
4.8E-04
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
2010 |
2016 |
rs142027093
|
0.882 |
0.200 |
11 |
22263044 |
splice donor variant |
G/A
|
snv
|
1.3E-04
|
8.4E-05
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
2011 |
2015 |
rs142027093
|
0.882 |
0.200 |
11 |
22263044 |
splice donor variant |
G/A
|
snv
|
1.3E-04
|
8.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2011 |
2015 |
rs137854523
|
0.851 |
0.240 |
11 |
22236206 |
missense variant |
G/T
|
snv
|
1.0E-03
|
9.6E-04
|
Hereditary fructose intolerance syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
2010 |
2015 |
rs137854523
|
0.851 |
0.240 |
11 |
22236206 |
missense variant |
G/T
|
snv
|
1.0E-03
|
9.6E-04
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
2010 |
2015 |
rs281865480
|
0.925 |
0.160 |
11 |
22259733 |
frameshift variant |
-/A
|
delins
|
|
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
6 |
2011 |
2015 |
rs281865480
|
0.925 |
0.160 |
11 |
22259733 |
frameshift variant |
-/A
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2011 |
2015 |
rs201725369
|
0.925 |
0.160 |
11 |
22218279 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.0E-04
|
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
2012 |
2016 |
rs115750596
|
1.000 |
0.120 |
11 |
22227542 |
missense variant |
G/A
|
snv
|
2.5E-03
|
9.5E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs137854521
|
0.851 |
0.200 |
11 |
22221100 |
frameshift variant |
-/A
|
delins
|
|
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2010 |
2013 |
rs137854521
|
0.851 |
0.200 |
11 |
22221100 |
frameshift variant |
-/A
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2013 |
rs137854527
|
0.925 |
0.160 |
11 |
22270431 |
missense variant |
A/G
|
snv
|
|
|
Osteogenesis imperfecta, Levin type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2011 |
2013 |
rs137854527
|
0.925 |
0.160 |
11 |
22270431 |
missense variant |
A/G
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2011 |
2013 |
rs138144479
|
1.000 |
0.120 |
11 |
22239606 |
missense variant |
C/G
|
snv
|
1.7E-03
|
7.1E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs139618850
|
1.000 |
0.120 |
11 |
22262138 |
missense variant |
G/A
|
snv
|
1.4E-04
|
9.8E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs142073798
|
1.000 |
0.120 |
11 |
22276177 |
missense variant |
T/A;G
|
snv
|
1.2E-04;
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs1422717390
|
1.000 |
0.120 |
11 |
22262999 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs148293985
|
1.000 |
0.120 |
11 |
22279721 |
missense variant |
A/C
|
snv
|
1.2E-03
|
1.7E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |