rs587780290
|
1.000 |
0.120 |
15 |
42410646 |
missense variant |
G/A
|
snv
|
2.0E-05
|
2.1E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1995 |
2017 |
rs776043976
|
1.000 |
0.120 |
15 |
42399640 |
missense variant |
C/G;T
|
snv
|
1.7E-05;
4.2E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1995 |
2017 |
rs149095128
|
1.000 |
0.120 |
15 |
42411299 |
missense variant |
C/A
|
snv
|
8.0E-05
|
1.7E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1995 |
2017 |
rs201736037
|
1.000 |
0.120 |
15 |
42401721 |
missense variant |
A/G
|
snv
|
5.6E-05
|
6.3E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
19 |
1995 |
2017 |
rs773827877
|
1.000 |
0.120 |
15 |
42399631 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.2E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
19 |
1995 |
2017 |
rs1555421271
|
1.000 |
0.120 |
15 |
42394287 |
missense variant |
T/G
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1995 |
2017 |
rs557164942
|
1.000 |
0.120 |
15 |
42401763 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1995 |
2017 |
rs1555420634
|
1.000 |
0.120 |
15 |
42388996 |
missense variant |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1995 |
2017 |
rs863224959
|
1.000 |
0.120 |
15 |
42402971 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
3.5E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
14 |
1995 |
2017 |
rs369784333
|
1.000 |
0.120 |
15 |
42388935 |
missense variant |
G/A
|
snv
|
8.7E-05
|
4.2E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
1995 |
2017 |
rs758795961
|
1.000 |
0.120 |
15 |
42387820 |
missense variant |
T/C
|
snv
|
1.6E-05
|
2.1E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
13 |
1995 |
2017 |
rs794727697
|
1.000 |
0.120 |
15 |
42389051 |
inframe deletion |
GAA/-
|
delins
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1999 |
2017 |
rs398123143
|
1.000 |
0.120 |
15 |
42402879 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1995 |
2017 |
rs777483913
|
1.000 |
0.120 |
15 |
42399607 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1995 |
2017 |
rs886042478
|
1.000 |
0.120 |
15 |
42360050 |
missense variant |
C/T
|
snv
|
8.0E-06
|
4.2E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
0.917 |
12 |
2002 |
2017 |
rs121434544
|
1.000 |
0.120 |
15 |
42402972 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2017 |
rs750083132
|
1.000 |
0.120 |
15 |
42410633 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2017 |
rs148044781
|
1.000 |
0.120 |
15 |
42401791 |
missense variant |
T/C
|
snv
|
1.5E-04
|
2.5E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs761637940
|
1.000 |
0.120 |
15 |
42401772 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs762020512
|
1.000 |
0.120 |
15 |
42359882 |
missense variant |
C/G;T
|
snv
|
2.4E-05;
2.0E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs773001194
|
1.000 |
0.120 |
15 |
42388944 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs863224957
|
1.000 |
0.120 |
15 |
42401751 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1998 |
2017 |
rs1345121557
|
1.000 |
0.120 |
15 |
42388959 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1998 |
2016 |
rs146923842
|
1.000 |
0.120 |
15 |
42410660 |
missense variant |
G/A
|
snv
|
7.9E-04
|
7.2E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2010 |
rs374665929
|
1.000 |
0.120 |
15 |
42399483 |
intron variant |
A/C;G
|
snv
|
1.2E-05
|
1.4E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1999 |
2015 |