Gene: DMD ×
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: 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: 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: 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: 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
dbSNP: rs128626254
rs128626254
DMD
2 0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs146071084
rs146071084
DMD
2 0.925 0.160 X 32454660 splice donor variant A/C;T snv 0.700 0
dbSNP: rs146880270
rs146880270
DMD
2 0.925 0.160 X 32438312 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs1556789913
rs1556789913
DMD
2 0.925 0.160 X 31657989 splice donor variant C/T snv 0.700 0
dbSNP: rs1556880354
rs1556880354
DMD
2 0.925 0.120 X 31774193 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 0.700 0