Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907150
DNAJB6
1.000 7 157367402 missense variant T/A;C snv 2
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
rs116840777
CAV3 ; SSUH2
3 8745788 missense variant G/A snv 1.2E-05 1.4E-05 1
rs140403642
TRAPPC11
4 183682810 stop gained C/T snv 8.0E-06 4.2E-05 1
rs1451079560
DYSF
2 71481916 missense variant A/G snv 1.4E-05 1
rs397508821
CFTR
7 117504294 missense variant T/C snv 4.0E-06 1
rs72677232
TTN ; TTN-AS1
2 178618210 missense variant C/T snv 1.6E-03 2.0E-03 1
rs747685252
ASTN2 ; TRIM32
9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06 1
rs758454952
MIR6751 ; SYVN1
11 65131290 missense variant T/C snv 4.0E-06 1
rs774296358
TTN-AS1 ; TTN
2 178539128 missense variant C/T snv 4.8E-05 9.8E-05 1
rs779139238
CAPN3
15 42408301 missense variant G/T snv 8.0E-06 1
rs116840776
SSUH2 ; CAV3
1.000 0.040 3 8745627 missense variant C/G snv 1.4E-03 1.6E-03 2
rs116840799
CAV3 ; SSUH2
1.000 0.040 3 8745599 missense variant C/G snv 2
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 9
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 5
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv 4
rs199806879
CAPN3
0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05 3
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
rs1562449164
LAMA2
1.000 0.120 6 129314653 splice acceptor variant A/C snv 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
rs750083132
CAPN3
1.000 0.120 15 42410633 missense variant A/G snv 8.0E-06 2
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37