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: rs863224991
rs863224991
DMD
1 1.000 0.040 X 32823369 frameshift variant -/A delins 0.700 1.000 1 2009 2009
dbSNP: rs1569533965
rs1569533965
DMD
1 1.000 0.040 X 32849772 frameshift variant -/C delins 0.700 1.000 1 2011 2011
dbSNP: rs1556641290
rs1556641290
DMD
1 1.000 0.040 X 31444524 frameshift variant -/G delins 0.700 1.000 1 2006 2006
dbSNP: rs1569469298
rs1569469298
DMD
1 1.000 0.040 X 32699239 frameshift variant -/GATGT delins 0.700 0
dbSNP: rs1569559110
rs1569559110
DMD
1 1.000 0.040 X 32346069 frameshift variant -/GTCTT delins 0.700 0
dbSNP: rs863225007
rs863225007
DMD
2 0.925 0.160 X 31968341 frameshift variant -/T delins 0.700 1.000 1 2009 2009
dbSNP: rs863225017
rs863225017
DMD
1 1.000 0.040 X 31209509 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs863225018
rs863225018
DMD
1 1.000 0.040 X 31182770 stop gained -/TTAC delins 0.700 1.000 1 2009 2009
dbSNP: rs398123839
rs398123839
DMD
1 1.000 0.040 X 31169542 frameshift variant A/- del 0.700 1.000 4 1992 2004
dbSNP: rs863224976
rs863224976
DMD
1 1.000 0.040 X 31169584 stop gained A/C snv 0.700 1.000 1 2005 2005
dbSNP: rs128626231
rs128626231
DMD
1 1.000 0.040 X 32849753 missense variant A/C snv 0.700 0
dbSNP: rs128627257
rs128627257
DMD
1 1.000 0.040 X 32310214 stop gained A/C snv 0.700 0
dbSNP: rs794727272
rs794727272
DMD
1 1.000 0.040 X 33020154 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs146071084
rs146071084
DMD
2 0.925 0.160 X 32454660 splice donor variant A/C;T snv 0.700 0
dbSNP: rs1569559822
rs1569559822
DMD
1 1.000 0.040 X 32364580 splice donor variant A/G snv 0.700 1.000 2 2006 2014
dbSNP: rs863225013
rs863225013
DMD
1 1.000 0.040 X 31507279 splice donor variant A/G snv 0.700 1.000 1 2009 2009
dbSNP: rs149106712
rs149106712
DMD
1 1.000 0.040 X 32697912 stop gained A/G;T snv 5.5E-06 0.700 0
dbSNP: rs863225010
rs863225010
DMD
1 1.000 0.040 X 31657988 splice donor variant A/T snv 0.700 1.000 2 2009 2009
dbSNP: rs1569452000
rs1569452000
DMD
1 1.000 0.040 X 31820037 stop gained A/T snv 0.700 0
dbSNP: rs398124078
rs398124078
DMD
1 1.000 0.040 X 31478130 frameshift variant AG/- delins 0.700 1.000 1 2011 2011
dbSNP: rs863225006
rs863225006
DMD
1 1.000 0.040 X 32287688 frameshift variant ATCT/- delins 0.700 1.000 1 1997 1997
dbSNP: rs1556764934
rs1556764934
DMD
1 1.000 0.040 X 31627820 frameshift variant ATCTA/- delins 0.700 0
dbSNP: rs863224985
rs863224985
DMD
1 1.000 0.040 X 32518085 stop gained C/A snv 0.700 1.000 2 2013 2017
dbSNP: rs863225008
rs863225008
DMD
1 1.000 0.040 X 31836813 stop gained C/A snv 0.700 1.000 2 2007 2009
dbSNP: rs398123997
rs398123997
DMD
1 1.000 0.040 X 32342249 stop gained C/A snv 0.700 1.000 1 2009 2009