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: 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: rs12524310
rs12524310 		1 1.000 0.120 6 67669441 intergenic variant T/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1698919
rs1698919 		1 1.000 0.120 18 77654787 upstream gene variant G/A snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs35693284
rs35693284 		1 1.000 0.120 18 74229912 intron variant G/A snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs56979833
rs56979833 		1 1.000 0.120 15 30008518 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1815739
rs1815739
ACTN3
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs17567824
rs17567824
ADCY1
1 1.000 0.120 7 45593023 intron variant T/G snv 7.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12547243
rs12547243
ADCY8
1 1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58 0.700 1.000 1 2018 2018
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: 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: rs1556040444
rs1556040444
DMD
1 1.000 0.120 X 31180482 splice acceptor variant C/T snv 0.700 1.000 4 2006 2017
dbSNP: rs1385794215
rs1385794215
DMD
1 1.000 0.120 X 31147289 stop gained G/A;T snv 5.5E-06 0.700 1.000 3 1998 2011
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: rs1055371114
rs1055371114
DMD
1 1.000 0.120 X 32484946 stop gained G/A;T snv 2.2E-05 0.700 1.000 2 1997 2010
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