Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894422
LOC107984585 ; SGCG
1.000 0.200 13 23324513 missense variant G/A snv 4.0E-06 2
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 10
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs116840776
SSUH2 ; CAV3
1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 2
rs116840777
CAV3 ; SSUH2
3 8745788 missense variant G/A snv 1.2E-05 1.4E-05 1
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 7
rs116840799
CAV3 ; SSUH2
1.000 0.040 3 8745599 missense variant C/G snv 2
rs116840805
SSUH2 ; CAV3
0.827 0.160 3 8745725 missense variant C/T snv 6
rs119462982
POMT1
1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06 2
rs121908960
DYSF
1.000 0.120 2 71553131 missense variant G/A;T snv 5.6E-05 2
rs121908961
DYSF
1.000 0.120 2 71667376 missense variant A/G snv 2
rs140403642
TRAPPC11
4 183682810 stop gained C/T snv 8.0E-06 4.2E-05 1
rs143570936
SGCA
0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 5
rs1451079560
DYSF
2 71481916 missense variant A/G snv 1.4E-05 1
rs1562449164
LAMA2
1.000 0.120 6 129314653 splice acceptor variant A/C snv 2
rs199806879
CAPN3
0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05 3
rs267607045
SGCD
1.000 0.200 5 156594940 missense variant G/C snv 2
rs28936383
SGCB
1.000 0.200 4 52028899 missense variant G/C snv 1.4E-05 2
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs387907150
DNAJB6
1.000 7 157367402 missense variant T/A;C snv 2
rs397508821
CFTR
7 117504294 missense variant T/C snv 4.0E-06 1
rs397509417
TRAPPC11
1.000 4 183701783 missense variant G/A snv 7.2E-05 1.4E-05 2
rs397517921
SGCD
5 156594936 frameshift variant A/- delins 2
rs45495192
TCAP
1.000 0.120 17 39665391 stop gained C/A;G;T snv 4.0E-06; 2.7E-04; 1.0E-03 2
rs543163491
FKRP
0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 6