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: rs1557362198
rs1557362198
DMD
1 1.000 0.120 X 32448529 frameshift variant T/- delins 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: 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: 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: rs878854366
rs878854366
DMD
1 1.000 0.120 X 31169486 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
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: rs1057518692
rs1057518692
DMD
1 1.000 0.120 X 32343221 frameshift variant C/- delins 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: rs1060502619
rs1060502619
DMD
1 1.000 0.120 X 31496944 splice acceptor variant CC/TT mnv 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: rs1060502624
rs1060502624
DMD
1 1.000 0.120 X 31261000 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1060502625
rs1060502625
DMD
1 1.000 0.120 X 31147347 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502627
rs1060502627
DMD
1 1.000 0.120 X 32518024 stop gained A/T snv 0.700 0
dbSNP: rs1060502630
rs1060502630
DMD
1 1.000 0.120 X 31169589 frameshift variant -/TT delins 0.700 0
dbSNP: rs1060502632
rs1060502632
DMD
1 1.000 0.120 X 32365108 frameshift variant CTTC/- delins 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: rs1060502635
rs1060502635
DMD
1 1.000 0.120 X 32545250 frameshift variant -/T delins 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
dbSNP: rs1060502637
rs1060502637
DMD
1 1.000 0.120 X 32411914 splice acceptor variant C/A snv 0.700 0