rs886042584
|
|
1.000 |
0.120 |
2 |
71669126 |
missense variant
|
G/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2010 |
2018 |
rs757917335
|
|
1.000 |
0.120 |
2 |
71611481 |
missense variant
|
T/C
|
snv
|
2.0E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
8 |
1998 |
2017 |
rs1380642629
|
|
1.000 |
0.120 |
2 |
71598644 |
stop gained
|
C/T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs1553522133
|
|
1.000 |
0.120 |
2 |
71516210 |
frameshift variant
|
G/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs398123794
|
|
0.925 |
0.160 |
2 |
71669191 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
7 |
2005 |
2016 |
rs750028300
|
|
0.882 |
0.120 |
2 |
71570277 |
missense variant
|
T/C
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
7 |
1989 |
2016 |
rs121908963
|
|
0.882 |
0.160 |
2 |
71517028 |
missense variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
6 |
1998 |
2016 |
rs201049092
|
|
0.925 |
0.160 |
2 |
71553110 |
missense variant
|
G/A;C
|
snv
|
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
6 |
1998 |
2016 |
rs202218890
|
|
0.827 |
0.160 |
2 |
71569884 |
missense variant
|
C/T
|
snv
|
4.0E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
6 |
2007 |
2016 |
rs398123802
|
|
1.000 |
0.120 |
2 |
71515714 |
missense variant
|
C/T
|
snv
|
1.2E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs779987458
|
|
0.925 |
0.160 |
2 |
71665182 |
missense variant
|
G/A
|
snv
|
8.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs863225021
|
|
0.882 |
0.160 |
2 |
71665181 |
missense variant
|
C/G;T
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
6 |
2005 |
2016 |
rs121908955
|
|
0.851 |
0.160 |
2 |
71682597 |
missense variant
|
C/T
|
snv
|
3.2E-05
|
2.1E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
5 |
1998 |
2016 |
rs398123800
|
|
1.000 |
0.120 |
2 |
71513922 |
splice donor variant
|
G/C
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
5 |
2012 |
2016 |
rs886039573
|
|
1.000 |
0.120 |
2 |
71551601 |
splice region variant
|
T/A
|
snv
|
4.4E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
5 |
2009 |
2016 |
rs886043900
|
|
1.000 |
0.120 |
2 |
71553119 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
5 |
1998 |
2016 |
rs121908958
|
|
0.851 |
0.160 |
2 |
71570704 |
missense variant
|
G/A
|
snv
|
2.0E-05
|
6.3E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
4 |
2001 |
2016 |
rs398123787
|
|
0.925 |
0.120 |
2 |
71612726 |
missense variant
|
G/A
|
snv
|
4.0E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
4 |
2007 |
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
|
0.800 |
1.000 |
4 |
1998 |
2016 |
rs1057521141
|
|
1.000 |
0.120 |
2 |
71679197 |
missense variant
|
C/T
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.800 |
1.000 |
3 |
1998 |
2016 |
rs1553522104
|
|
1.000 |
0.120 |
2 |
71516181 |
frameshift variant
|
CT/-
|
delins
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2008 |
2016 |
rs1553535902
|
|
1.000 |
0.120 |
2 |
71535090 |
splice donor variant
|
G/A
|
snv
|
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2007 |
2016 |
rs199954546
|
|
1.000 |
0.120 |
2 |
71568339 |
splice donor variant
|
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2009 |
2016 |
rs369607332
|
|
0.925 |
0.120 |
2 |
71570679 |
stop gained
|
C/A;T
|
snv
|
1.6E-05;
2.4E-05
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2005 |
2016 |
rs756328339
|
|
1.000 |
0.120 |
2 |
71570608 |
missense variant
|
A/G
|
snv
|
1.2E-05
|
1.4E-05
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
0.700 |
1.000 |
3 |
2005 |
2016 |