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 |
rs761211705
|
1.000 |
0.120 |
15 |
42389944 |
intron variant |
G/A;C
|
snv
|
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 |
6 |
2005 |
2016 |
rs868791726
|
1.000 |
0.120 |
15 |
42410925 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1995 |
2017 |
rs121434545
|
1.000 |
0.120 |
15 |
42384501 |
stop gained |
C/A;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
|
0.700 |
1.000 |
2 |
1995 |
2014 |
rs1555421280
|
1.000 |
0.120 |
15 |
42394305 |
stop gained |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2002 |
2006 |
rs863224960
|
1.000 |
0.120 |
15 |
42409327 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2007 |
2008 |
rs752848213
|
1.000 |
0.120 |
15 |
42402919 |
stop gained |
C/G;T
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs768090444
|
1.000 |
0.120 |
15 |
42410645 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
2.1E-05
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1555420462
|
1.000 |
0.120 |
15 |
42387757 |
stop gained |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555420475
|
1.000 |
0.120 |
15 |
42387772 |
stop gained |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421523
|
1.000 |
0.120 |
15 |
42396802 |
stop gained |
G/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555421847
|
1.000 |
0.120 |
15 |
42399532 |
stop gained |
G/T
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555422839
|
1.000 |
0.120 |
15 |
42408268 |
stop gained |
G/T
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555423015
|
1.000 |
0.120 |
15 |
42409801 |
stop gained |
T/A
|
snv
|
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs766334893
|
1.000 |
0.120 |
15 |
42392720 |
stop gained |
G/T
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs777636094
|
1.000 |
0.120 |
15 |
42409336 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854364
|
0.925 |
0.120 |
15 |
42386226 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs141656719
|
0.925 |
0.120 |
15 |
42401754 |
missense variant |
C/T
|
snv
|
4.0E-06;
8.4E-05
|
1.5E-04
|
Limb-girdle muscular dystrophy type 2A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1995 |
2017 |
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 |
rs121434548
|
0.925 |
0.120 |
15 |
42401755 |
missense variant |
G/A;C
|
snv
|
6.8E-05;
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 |
22 |
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 |