Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398124099
rs398124099
DMD
1.000 0.120 X 32650983 intron variant G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2004 2010
dbSNP: rs11017928
rs11017928
1.000 0.120 10 127409786 intron variant G/A snv 9.2E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs149640
rs149640
1.000 0.120 14 72187545 intron variant G/A;T snv 0.11
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs17567824
rs17567824
1.000 0.120 7 45593023 intron variant T/G snv 7.2E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs2725797
rs2725797
1.000 0.120 15 38817032 intron variant G/A snv 0.23
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs35693284
rs35693284
1.000 0.120 18 74229912 intron variant G/A snv 7.8E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs56979833
rs56979833
1.000 0.120 15 30008518 intron variant A/G snv 0.23
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs710160
rs710160
1.000 0.120 19 40581585 intron variant T/A;C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs74643788
rs74643788
1.000 0.120 16 17268972 intron variant C/G;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs754118
rs754118
0.882 0.200 20 50575367 intron variant T/C snv 0.62
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs182575709
rs182575709
DMD
0.925 0.120 X 32461403 intron variant T/C;G snv 5.7E-03
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 0
dbSNP: rs72470513
rs72470513
DMD
1.000 0.120 X 32698013 intron variant T/C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 0
dbSNP: rs12524310
rs12524310
1.000 0.120 6 67669441 intergenic variant T/C snv 0.17
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs1078793
rs1078793
1.000 0.120 7 45127042 regulatory region variant T/A snv 0.16
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2018 2018
dbSNP: rs398123942
rs398123942
DMD
1.000 0.120 X 32454685 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 7 2008 2018
dbSNP: rs1556503937
rs1556503937
DMD
1.000 0.120 X 31323639 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 5 1999 2017
dbSNP: rs1385794215
rs1385794215
DMD
1.000 0.120 X 31147289 stop gained G/A;T snv 5.5E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 1998 2011
dbSNP: rs1556875224
rs1556875224
DMD
1.000 0.120 X 32644171 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2007 2011
dbSNP: rs398122853
rs398122853
DMD
0.882 0.160 X 33211304 stop gained C/T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2009 2017
dbSNP: rs398123827
rs398123827
DMD
1.000 0.120 X 31180423 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2000 2013
dbSNP: rs794726993
rs794726993
DMD
0.882 0.160 X 32645020 stop gained G/A;C snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 3 2009 2017
dbSNP: rs1055371114
rs1055371114
DMD
1.000 0.120 X 32484946 stop gained G/A;T snv 2.2E-05
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 2 1997 2010
dbSNP: rs1557303544
rs1557303544
DMD
1.000 0.120 X 32362847 stop gained G/A snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 2 2005 2006
dbSNP: rs398123852
rs398123852
DMD
1.000 0.120 X 32644202 stop gained G/A;C snv 5.5E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 2 2006 2008
dbSNP: rs1010666282
rs1010666282
DMD
1.000 0.120 X 32411754 stop gained G/A;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.700 1.000 1 2014 2014