rs28937900
|
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv
|
1.0E-03
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.830 |
1.000 |
6 |
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
|
0.800 |
1.000 |
6 |
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
|
0.800 |
1.000 |
5 |
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
|
0.800 |
1.000 |
3 |
2001 |
2018 |
rs768606230
|
|
1.000 |
0.120 |
19 |
46756834 |
missense variant
|
C/T
|
snv
|
9.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
3 |
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
|
0.800 |
1.000 |
1 |
2001 |
2018 |
rs398124395
|
|
1.000 |
0.120 |
19 |
46756391 |
missense variant
|
C/A;T
|
snv
|
6.1E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs104894681
|
|
0.776 |
0.200 |
19 |
46756793 |
missense variant
|
C/T
|
snv
|
9.0E-06
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
0.800 |
1.000 |
0 |
2001 |
2010 |
rs104894684
|
|
1.000 |
|
19 |
46756403 |
missense variant
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
0.800 |
1.000 |
0 |
2004 |
2004 |
rs104894692
|
|
0.882 |
0.160 |
19 |
46756369 |
missense variant
|
T/A
|
snv
|
6.3E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
|
0.800 |
1.000 |
0 |
2004 |
2004 |
rs28937900
|
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv
|
1.0E-03
|
|
Muscular Dystrophies, Limb-Girdle
|
0.730 |
1.000 |
22 |
2001 |
2018 |
rs28937900
|
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv
|
1.0E-03
|
|
Walker-Warburg congenital muscular dystrophy
|
0.710 |
1.000 |
10 |
2001 |
2018 |
rs28937900
|
|
0.752 |
0.160 |
19 |
46756276 |
missense variant
|
C/A;T
|
snv
|
1.0E-03
|
|
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
0.710 |
1.000 |
0 |
2001 |
2001 |
rs28937903
|
|
0.882 |
0.160 |
19 |
46756814 |
missense variant
|
C/A;T
|
snv
|
4.5E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
0.700 |
1.000 |
8 |
2004 |
2017 |
rs28937903
|
|
0.882 |
0.160 |
19 |
46756814 |
missense variant
|
C/A;T
|
snv
|
4.5E-06
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
7 |
2004 |
2014 |
rs770711331
|
|
0.925 |
0.160 |
19 |
46755716 |
missense variant
|
C/T
|
snv
|
1.5E-05
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
6 |
2005 |
2009 |
rs104894692
|
|
0.882 |
0.160 |
19 |
46756369 |
missense variant
|
T/A
|
snv
|
6.3E-06
|
1.4E-05
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
5 |
2003 |
2008 |
rs754403441
|
|
0.925 |
0.160 |
19 |
46756586 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
5 |
2001 |
2015 |
rs104894680
|
|
1.000 |
0.120 |
19 |
46756604 |
stop gained
|
C/A;G;T
|
snv
|
4.1E-06;
1.7E-04
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2001 |
2004 |
rs1555738103
|
|
1.000 |
0.120 |
19 |
46755588 |
frameshift variant
|
C/-
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2001 |
2012 |
rs1568419860
|
|
1.000 |
0.120 |
19 |
46756525 |
frameshift variant
|
-/GG
|
delins
|
|
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2005 |
2017 |
rs563033008
|
|
0.925 |
0.160 |
19 |
46756348 |
missense variant
|
G/A
|
snv
|
3.2E-05
|
3.1E-04
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
4 |
2003 |
2017 |
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
|
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
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs104894691
|
|
0.925 |
0.160 |
19 |
46756349 |
missense variant
|
T/C
|
snv
|
6.4E-06
|
4.2E-05
|
Walker-Warburg congenital muscular dystrophy
|
0.700 |
1.000 |
3 |
2003 |
2014 |