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: rs121908962
rs121908962
DYSF
2 0.925 0.160 2 71551073 missense variant G/A snv 7.0E-06 0.710 1.000 1 2007 2007
dbSNP: rs140108514
rs140108514
DYSF
4 0.851 0.120 2 71568083 splice donor variant G/A snv 1.2E-04 4.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs1024524968
rs1024524968
DYSF
1 1.000 2 71669673 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121908953
rs121908953
DYSF
1 1.000 2 71553071 stop gained C/T snv 0.700 0
dbSNP: rs121908955
rs121908955
DYSF
4 0.851 0.160 2 71682597 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs121908956
rs121908956
DYSF
4 0.851 0.160 2 71564074 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121908957
rs121908957
DYSF
3 0.882 0.160 2 71481934 missense variant TG/AT mnv 0.700 0
dbSNP: rs121908958
rs121908958
DYSF
4 0.851 0.160 2 71570704 missense variant G/A snv 2.0E-05 6.3E-05 0.700 0
dbSNP: rs121908959
rs121908959
DYSF
4 0.851 0.120 2 71674242 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs121908963
rs121908963
DYSF
3 0.882 0.160 2 71517028 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs202218890
rs202218890
DYSF
5 0.827 0.160 2 71569884 missense variant C/T snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs28937581
rs28937581
DYSF
9 0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 0.700 0
dbSNP: rs398123763
rs398123763
DYSF
4 0.851 0.120 2 71520905 splice donor variant G/A snv 2.1E-05 0.700 0
dbSNP: rs398123781
rs398123781
DYSF
4 0.851 0.120 2 71590212 stop gained TG/AA mnv 0.700 0
dbSNP: rs727503909
rs727503909
DYSF
3 0.882 0.120 2 71568305 frameshift variant G/- delins 0.700 0
dbSNP: rs746873768
rs746873768
DYSF
4 0.851 0.120 2 71553092 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs750028300
rs750028300
DYSF
3 0.882 0.120 2 71570277 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs758180890
rs758180890
DYSF
4 0.851 0.120 2 71526295 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs778171516
rs778171516
DMD
2 0.925 0.160 X 32595795 missense variant C/T snv 5.5E-06 0.010 1.000 1 2007 2007