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: 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
dbSNP: rs1557369991
rs1557369991
DMD
1 1.000 0.120 X 32464594 stop gained G/A snv 0.700 1.000 1 2007 2007
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: 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: 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: rs2725797
rs2725797
LINC02694
1 1.000 0.120 15 38817032 intron variant G/A snv 0.23 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: 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: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2006 2006
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: rs710160
rs710160
SHKBP1
1 1.000 0.120 19 40581585 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs74643788
rs74643788
XYLT1
1 1.000 0.120 16 17268972 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs754118
rs754118
PTPN1
3 0.882 0.200 20 50575367 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 0
dbSNP: rs104894789
rs104894789
DMD
1 1.000 0.120 X 31182784 stop gained G/A snv 0.700 0
dbSNP: rs1057518207
rs1057518207
DMD
1 1.000 0.120 X 32545158 splice donor variant C/T snv 0.700 0
dbSNP: rs1057524037
rs1057524037
DMD
1 1.000 0.120 X 31206610 stop gained A/G;T snv 5.5E-06 0.700 0
dbSNP: rs1060502621
rs1060502621
DMD
1 1.000 0.120 X 31627681 stop gained G/A snv 0.700 0
dbSNP: rs1060502623
rs1060502623
DMD
1 1.000 0.120 X 32343226 stop gained T/A snv 0.700 0
dbSNP: rs1060502627
rs1060502627
DMD
1 1.000 0.120 X 32518024 stop gained A/T snv 0.700 0
dbSNP: rs1060502633
rs1060502633
DMD
1 1.000 0.120 X 31478129 stop gained G/A snv 0.700 0
dbSNP: rs1060502634
rs1060502634
DMD
1 1.000 0.120 X 32644963 splice donor variant C/T snv 0.700 0
dbSNP: rs1060502636
rs1060502636
DMD
1 1.000 0.120 X 32518098 stop gained C/G;T snv 5.5E-06 0.700 0