rs28937900
|
0.752 |
0.160 |
19 |
46756276 |
missense variant |
C/A;T
|
snv
|
1.0E-03
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.830 |
1.000 |
12 |
2001 |
2018 |
rs104894692
|
0.882 |
0.160 |
19 |
46756369 |
missense variant |
T/A
|
snv
|
6.3E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
2001 |
2018 |
rs543163491
|
0.827 |
0.160 |
19 |
46755995 |
missense variant |
A/G;T
|
snv
|
8.2E-05;
6.8E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2001 |
2018 |
rs104894691
|
0.925 |
0.160 |
19 |
46756349 |
missense variant |
T/C
|
snv
|
6.4E-06
|
4.2E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2018 |
rs28937903
|
0.882 |
0.160 |
19 |
46756814 |
missense variant |
C/A;T
|
snv
|
4.5E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2004 |
2017 |
rs768606230
|
1.000 |
0.120 |
19 |
46756834 |
missense variant |
C/T
|
snv
|
9.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2001 |
2018 |
rs104894683
|
1.000 |
0.120 |
19 |
46755685 |
missense variant |
G/A
|
snv
|
1.0E-03
|
4.3E-03
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs104894690
|
1.000 |
0.120 |
19 |
46755850 |
missense variant |
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs143031195
|
1.000 |
0.120 |
19 |
46756523 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.0E-04
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs1450841129
|
1.000 |
0.120 |
19 |
46756466 |
missense variant |
G/A;C;T
|
snv
|
5.2E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs28937901
|
1.000 |
0.120 |
19 |
46756396 |
missense variant |
C/A;T
|
snv
|
6.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2018 |
rs28937905
|
1.000 |
0.120 |
19 |
46755610 |
missense variant |
C/G;T
|
snv
|
8.6E-06;
4.3E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2001 |
2018 |
rs765885747
|
1.000 |
0.120 |
19 |
46756378 |
stop gained |
G/C;T
|
snv
|
4.4E-05;
2.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs770711331
|
0.925 |
0.160 |
19 |
46755716 |
missense variant |
C/T
|
snv
|
1.5E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs748087383
|
1.000 |
0.120 |
19 |
46756617 |
frameshift variant |
CG/-
|
delins
|
8.2E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2017 |
rs1301397800
|
1.000 |
0.120 |
19 |
46756883 |
missense variant |
T/C
|
snv
|
4.1E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2009 |
rs886042506
|
0.925 |
0.160 |
19 |
46755610 |
frameshift variant |
-/GGAG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2008 |
rs1191737604
|
1.000 |
0.120 |
19 |
46756004 |
frameshift variant |
C/-;CC
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1555738823
|
1.000 |
0.120 |
19 |
46756309 |
frameshift variant |
TTCGGCTGCAA/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1555739333
|
1.000 |
0.120 |
19 |
46756925 |
frameshift variant |
C/-
|
del
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs398124395
|
1.000 |
0.120 |
19 |
46756391 |
missense variant |
C/A;T
|
snv
|
6.1E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs754403441
|
0.925 |
0.160 |
19 |
46756586 |
frameshift variant |
G/-;GG
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs104894681
|
0.776 |
0.200 |
19 |
46756793 |
missense variant |
C/T
|
snv
|
9.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894682
|
0.925 |
0.160 |
19 |
46756936 |
stop lost |
T/A
|
snv
|
8.1E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894689
|
1.000 |
0.120 |
19 |
46756214 |
stop gained |
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|