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: rs267606771
rs267606771
DMD
1 1.000 0.120 X 32448611 stop gained C/A snv 0.710 1.000 1 1997 1997
dbSNP: rs749989940
rs749989940
DMD
1 1.000 0.120 X 32545253 missense variant C/T snv 5.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs1280415176
rs1280415176
DMD
1 1.000 0.120 X 32645113 missense variant A/T snv 1.1E-05 0.700 0
dbSNP: rs128626236
rs128626236
DMD
1 1.000 0.120 X 32816495 missense variant G/T snv 0.700 0
dbSNP: rs128626237
rs128626237
DMD
1 1.000 0.120 X 32699252 missense variant A/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: rs1557047827
rs1557047827
DMD
2 0.925 0.120 X 32809512 frameshift variant C/- del 0.700 0
dbSNP: rs1557380616
rs1557380616
DMD
2 0.925 0.120 X 32485053 stop gained A/T snv 0.700 0
dbSNP: rs1569546198
rs1569546198
DMD
1 1.000 0.120 X 31479104 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1569564916
rs1569564916
DMD
1 1.000 0.120 X 32501752 splice region variant T/A;G snv 0.700 0
dbSNP: rs1800279
rs1800279
DMD
1 1.000 0.120 X 31478281 missense variant T/C snv 2.6E-02 2.2E-02 0.700 0
dbSNP: rs182575709
rs182575709
DMD
2 0.925 0.120 X 32461403 intron variant T/C;G snv 5.7E-03 0.700 0
dbSNP: rs398124105
rs398124105
DMD
2 0.925 0.120 X 31182849 frameshift variant CATCCAGTCT/- delins 0.700 0
dbSNP: rs759108067
rs759108067
DMD
1 1.000 0.120 X 32411870 missense variant G/A snv 1.4E-04 9.5E-06 0.700 0
dbSNP: rs779739455
rs779739455
DMD
2 0.925 0.120 X 31968451 splice acceptor variant C/A;G snv 5.5E-06 0.700 0
dbSNP: rs863225016
rs863225016
DMD
1 1.000 0.120 X 32849821 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs886042840
rs886042840
DMD
2 0.925 0.120 X 31178789 inframe deletion TCT/- delins 0.700 0
dbSNP: rs886043375
rs886043375
DMD
2 0.925 0.120 X 31169543 frameshift variant G/-;GG delins 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 0.710 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: rs16863247
rs16863247 		2 0.925 0.160 1 162535706 regulatory region variant A/G snv 4.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800309
rs1800309
GAA
3 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.010 1.000 1 2018 2018
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: rs748537564
rs748537564
CLCN1
3 0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 0.010 1.000 1 1999 1999