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: rs1131692158
rs1131692158
DYSF
5 1.000 0.120 2 71669207 missense variant G/A;C 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: rs202247792
rs202247792
LAMA2
5 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs267607261
rs267607261
MPV17
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 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: rs368900406
rs368900406
MPV17
27 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs374259530
rs374259530
ADSL
5 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs756210458
rs756210458
ADSL
5 0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-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: rs778768583
rs778768583
CAPN3
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0