Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.730 1.000 24 2001 2018
dbSNP: rs140403642
rs140403642
TRAPPC11
1 4 183682810 stop gained C/T snv 8.0E-06 4.2E-05 0.700 1.000 2 2015 2017
dbSNP: rs1562449164
rs1562449164
LAMA2
2 1.000 0.120 6 129314653 splice acceptor variant A/C snv 0.700 0
dbSNP: rs72677232
rs72677232
TTN ; TTN-AS1
1 2 178618210 missense variant C/T snv 1.6E-03 2.0E-03 0.700 0
dbSNP: rs747685252
rs747685252
TRIM32 ; ASTN2
1 9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06 0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
9 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs760768093
rs760768093
TTN ; TTN-AS1
7 0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 0.700 0
dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
6 0.827 0.160 3 8745725 missense variant C/T snv 0.020 1.000 2 2004 2008
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
2 1.000 0.200 13 23324513 missense variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
4 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs116840776
rs116840776
CAV3 ; SSUH2
2 1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs116840777
rs116840777
CAV3 ; SSUH2
1 3 8745788 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs116840799
rs116840799
CAV3 ; SSUH2
2 1.000 0.040 3 8745599 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs119462982
rs119462982
POMT1
2 1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121908960
rs121908960
DYSF
2 1.000 0.120 2 71553131 missense variant G/A;T snv 5.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs121908961
rs121908961
DYSF
2 1.000 0.120 2 71667376 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs143570936
rs143570936
SGCA
5 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1451079560
rs1451079560
DYSF
1 2 71481916 missense variant A/G snv 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs199806879
rs199806879
CAPN3
3 0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2005 2005
dbSNP: rs267607045
rs267607045
SGCD
2 1.000 0.200 5 156594940 missense variant G/C snv 0.010 1.000 1 2009 2009
dbSNP: rs28936383
rs28936383
SGCB
2 1.000 0.200 4 52028899 missense variant G/C snv 1.4E-05 0.010 1.000 1 1996 1996
dbSNP: rs387907150
rs387907150
DNAJB6
2 1.000 7 157367402 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs397508821
rs397508821
CFTR
1 7 117504294 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014