rs757917335
|
1.000 |
0.120 |
2 |
71611481 |
missense variant |
T/C
|
snv
|
2.0E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
21 |
1998 |
2017 |
rs121908955
|
0.851 |
0.160 |
2 |
71682597 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1998 |
2016 |
rs121908963
|
0.882 |
0.160 |
2 |
71517028 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1998 |
2016 |
rs150877497
|
0.925 |
0.120 |
2 |
71570680 |
missense variant |
G/A;C
|
snv
|
5.2E-05;
4.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1998 |
2015 |
rs201049092
|
0.925 |
0.160 |
2 |
71553110 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1998 |
2016 |
rs746243052
|
0.925 |
0.120 |
2 |
71667477 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
1998 |
2016 |
rs886043900
|
1.000 |
0.120 |
2 |
71553119 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
1998 |
2016 |
rs1057521141
|
1.000 |
0.120 |
2 |
71679197 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1998 |
2016 |
rs121908956
|
0.851 |
0.160 |
2 |
71564074 |
missense variant |
C/A;G;T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1998 |
2009 |
rs121908957
|
0.882 |
0.160 |
2 |
71481934 |
missense variant |
TG/AT
|
mnv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1998 |
2009 |
rs121908960
|
1.000 |
0.120 |
2 |
71553131 |
missense variant |
G/A;T
|
snv
|
5.6E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1998 |
2009 |
rs121908961
|
1.000 |
0.120 |
2 |
71667376 |
missense variant |
A/G
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1998 |
2009 |
rs202218890
|
0.827 |
0.160 |
2 |
71569884 |
missense variant |
C/T
|
snv
|
4.0E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2007 |
2016 |
rs377735262
|
0.882 |
0.160 |
2 |
71551631 |
missense variant |
C/T
|
snv
|
2.9E-05
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2009 |
2015 |
rs121908962
|
0.925 |
0.160 |
2 |
71551073 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
15 |
1998 |
2009 |
rs121908959
|
0.851 |
0.120 |
2 |
71674242 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Dysferlinopathy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs121908962
|
0.925 |
0.160 |
2 |
71551073 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Miyoshi myopathy
|
|
0.710 |
1.000 |
0 |
2007 |
2007 |
rs121908955
|
0.851 |
0.160 |
2 |
71682597 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.1E-05
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs121908956
|
0.851 |
0.160 |
2 |
71564074 |
missense variant |
C/A;G;T
|
snv
|
|
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs121908957
|
0.882 |
0.160 |
2 |
71481934 |
missense variant |
TG/AT
|
mnv
|
|
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs121908958
|
0.851 |
0.160 |
2 |
71570704 |
missense variant |
G/A
|
snv
|
2.0E-05
|
6.3E-05
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs121908963
|
0.882 |
0.160 |
2 |
71517028 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs28937581
|
0.827 |
0.160 |
2 |
71570300 |
missense variant |
G/T
|
snv
|
1.2E-05
|
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1998 |
2014 |
rs121908954
|
0.925 |
0.160 |
2 |
71602794 |
missense variant |
A/G
|
snv
|
4.6E-03
|
4.7E-03
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1998 |
2009 |
rs144598063
|
1.000 |
0.160 |
2 |
71570688 |
missense variant |
C/T
|
snv
|
1.7E-04
|
1.3E-04
|
Miyoshi Muscular Dystrophy 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1998 |
2009 |