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: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs28357094
rs28357094
3 0.882 0.160 4 87975645 non coding transcript exon variant T/G snv 0.17 0.050 1.000 5 2012 2017
dbSNP: rs373286166
rs373286166
DMD
3 0.882 0.160 X 32573529 splice donor variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 5 2007 2016
dbSNP: rs398122853
rs398122853
DMD
3 0.882 0.160 X 33211304 stop gained C/T snv 0.700 1.000 3 2009 2017
dbSNP: rs794726993
rs794726993
DMD
3 0.882 0.160 X 32645020 stop gained G/A;C snv 0.700 1.000 3 2009 2017
dbSNP: rs398123909
rs398123909
DMD
3 0.882 0.160 X 32472310 splice acceptor variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs754118
rs754118
3 0.882 0.200 20 50575367 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 0
dbSNP: rs128627256
rs128627256
DMD
3 0.882 0.160 X 31478330 stop gained G/A snv 0.700 0
dbSNP: rs398123832
rs398123832
DMD
3 0.882 0.160 X 31178721 stop gained G/A snv 0.700 0
dbSNP: rs398123929
rs398123929
DMD
3 0.882 0.160 X 32468509 stop gained G/A snv 0.700 0
dbSNP: rs398123935
rs398123935
DMD
3 0.882 0.160 X 32463576 stop gained G/A snv 0.700 0
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 3 1990 2016
dbSNP: rs398123923
rs398123923
DMD
2 0.925 0.160 X 33211281 splice donor variant C/A;G snv 0.700 1.000 2 2006 2014
dbSNP: rs104894790
rs104894790
DMD
2 0.925 0.160 X 31178751 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs10880
rs10880
2 0.925 0.160 19 40622404 missense variant C/T snv 0.38 0.39 0.010 1.000 1 2015 2015
dbSNP: rs128626232
rs128626232
DMD
2 0.925 0.160 X 32545310 stop gained G/A;C snv 1.1E-05 0.700 0
dbSNP: rs128626235
rs128626235
DMD
2 0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs128626241
rs128626241
DMD
2 0.925 0.160 X 32595870 stop gained G/A snv 0.700 0
dbSNP: rs128626245
rs128626245
DMD
2 0.925 0.160 X 32468539 stop gained G/A snv 0.700 0
dbSNP: rs128626248
rs128626248
DMD
2 0.925 0.160 X 32389605 stop gained G/A snv 0.700 0
dbSNP: rs128626251
rs128626251
DMD
2 0.925 0.160 X 32216981 stop gained G/A snv 0.700 0