Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs747685252
ASTN2 ; TRIM32
9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06 1
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs199806879
CAPN3
0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05 3
rs750083132
CAPN3
1.000 0.120 15 42410633 missense variant A/G snv 8.0E-06 2
rs779139238
CAPN3
15 42408301 missense variant G/T snv 8.0E-06 1
rs116840799
CAV3 ; SSUH2
1.000 0.040 3 8745599 missense variant C/G snv 2
rs116840777
CAV3 ; SSUH2
3 8745788 missense variant G/A snv 1.2E-05 1.4E-05 1
rs397508821
CFTR
7 117504294 missense variant T/C snv 4.0E-06 1
rs387907150
DNAJB6
1.000 7 157367402 missense variant T/A;C snv 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
rs1451079560
DYSF
2 71481916 missense variant A/G snv 1.4E-05 1
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 10
rs543163491
FKRP
0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06 6
rs1562449164
LAMA2
1.000 0.120 6 129314653 splice acceptor variant A/C snv 2
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv 4
rs104894422
LOC107984585 ; SGCG
1.000 0.200 13 23324513 missense variant G/A snv 4.0E-06 2
rs758454952
MIR6751 ; SYVN1
11 65131290 missense variant T/C snv 4.0E-06 1
rs119462982
POMT1
1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06 2
rs143570936
SGCA
0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 5
rs903823830
SGCA ; LOC105371818
1.000 0.200 17 50167422 missense variant T/C snv 2
rs28936383
SGCB
1.000 0.200 4 52028899 missense variant G/C snv 1.4E-05 2
rs267607045
SGCD
1.000 0.200 5 156594940 missense variant G/C snv 2