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: rs398123942
rs398123942
DMD
1 1.000 0.120 X 32454685 stop gained G/A snv 0.700 1.000 7 2008 2018
dbSNP: rs1556503937
rs1556503937
DMD
1 1.000 0.120 X 31323639 stop gained C/T snv 0.700 1.000 5 1999 2017
dbSNP: rs1556806356
rs1556806356
DMD
1 1.000 0.120 X 31679588 splice acceptor variant T/C snv 0.700 1.000 5 2006 2015
dbSNP: rs28357094
rs28357094
SPP1
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: rs1556040444
rs1556040444
DMD
1 1.000 0.120 X 31180482 splice acceptor variant C/T snv 0.700 1.000 4 2006 2017
dbSNP: rs1556802319
rs1556802319
DMD
1 1.000 0.120 X 32565701 splice donor variant C/A snv 0.700 1.000 3 2006 2014
dbSNP: rs1556875224
rs1556875224
DMD
1 1.000 0.120 X 32644171 stop gained C/T snv 0.700 1.000 3 2007 2011
dbSNP: rs1557374667
rs1557374667
DMD
1 1.000 0.120 X 32472310 splice acceptor variant C/- del 0.700 1.000 3 2006 2017
dbSNP: rs398122853
rs398122853
DMD
3 0.882 0.160 X 33211304 stop gained C/T snv 0.700 1.000 3 2009 2017
dbSNP: rs398123827
rs398123827
DMD
1 1.000 0.120 X 31180423 stop gained G/A snv 0.700 1.000 3 2000 2013
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 3 1990 2016
dbSNP: rs398124099
rs398124099
DMD
1 1.000 0.120 X 32650983 intron variant G/A snv 0.700 1.000 3 2004 2010
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: rs1556035817
rs1556035817
DMD
1 1.000 0.120 X 31177964 splice acceptor variant ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- delins 0.700 1.000 2 2006 2014
dbSNP: rs1557303544
rs1557303544
DMD
1 1.000 0.120 X 32362847 stop gained G/A snv 0.700 1.000 2 2005 2006
dbSNP: rs1557380685
rs1557380685
DMD
1 1.000 0.120 X 32485084 frameshift variant G/- del 0.700 1.000 2 2007 2011
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: rs1010666282
rs1010666282
DMD
1 1.000 0.120 X 32411754 stop gained G/A;T snv 0.700 1.000 1 2014 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: rs1078793
rs1078793 		1 1.000 0.120 7 45127042 regulatory region variant T/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11017928
rs11017928
DOCK1
1 1.000 0.120 10 127409786 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12524310
rs12524310 		1 1.000 0.120 6 67669441 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs149640
rs149640
RGS6
1 1.000 0.120 14 72187545 intron variant G/A;T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs1556665052
rs1556665052
DMD
1 1.000 0.120 X 31496787 splice donor variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1556853298
rs1556853298
DMD
1 1.000 0.120 X 32614419 stop gained T/A snv 0.700 1.000 1 2006 2006