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: rs201892814
rs201892814
CAPN3
8 1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 0.700 0
dbSNP: rs768090444
rs768090444
CAPN3
3 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs1559697515
rs1559697515
GMPPB
1 3 49723016 missense variant T/C snv 0.700 0
dbSNP: rs143570936
rs143570936
SGCA
5 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 0
dbSNP: rs914586984
rs914586984
SCN4A ; LOC105371858
9 1.000 0.120 17 63959275 missense variant G/C;T snv 0.700 0
dbSNP: rs1553521119
rs1553521119
DYSF
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs200916654
rs200916654
DYSF
4 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
dbSNP: rs757917335
rs757917335
DYSF
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs770905160
rs770905160
DYSF
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs1131692158
rs1131692158
DYSF
5 1.000 0.120 2 71669207 missense variant G/A;C snv 0.700 0
dbSNP: rs104894080
rs104894080
GDAP1
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs1567825175
rs1567825175
GAA
1 17 80104590 stop gained G/T snv 0.700 0
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 0
dbSNP: rs116840786
rs116840786
CAV3 ; SSUH2
1 3 8733962 missense variant C/A;T snv 0.800 0
dbSNP: rs116840789
rs116840789
CAV3 ; SSUH2
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.700 0
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
2 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0