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: rs1060502619
rs1060502619
DMD
1 1.000 0.120 X 31496944 splice acceptor variant CC/TT mnv 0.700 0
dbSNP: rs1557305645
rs1557305645
DMD
1 1.000 0.120 X 32365126 stop gained GT/CA mnv 0.700 0
dbSNP: rs1557374667
rs1557374667
DMD
1 1.000 0.120 X 32472310 splice acceptor variant C/- del 0.700 1.000 3 2006 2017
dbSNP: rs1557380685
rs1557380685
DMD
1 1.000 0.120 X 32485084 frameshift variant G/- del 0.700 1.000 2 2007 2011
dbSNP: rs1060502640
rs1060502640
DMD
1 1.000 0.120 X 32287614 frameshift variant C/- del 0.700 0
dbSNP: rs1060502648
rs1060502648
DMD
1 1.000 0.120 X 31209627 frameshift variant A/- del 0.700 0
dbSNP: rs1556035795
rs1556035795
DMD
1 1.000 0.120 X 31177956 frameshift variant A/- del 0.700 0
dbSNP: rs1557047827
rs1557047827
DMD
2 0.925 0.120 X 32809512 frameshift variant C/- del 0.700 0
dbSNP: rs1557058308
rs1557058308
DMD
1 1.000 0.120 X 32823296 frameshift variant T/- del 0.700 0
dbSNP: rs1557291170
rs1557291170
DMD
1 1.000 0.120 X 32343233 frameshift variant ATACCACTGATGAGAAATTTCTAGAGCC/- del 0.700 0
dbSNP: rs1557300135
rs1557300135
DMD
1 1.000 0.120 X 33211294 frameshift variant C/- del 0.700 0
dbSNP: rs1557359217
rs1557359217
DMD
1 1.000 0.120 X 32441284 frameshift variant A/- del 0.700 0
dbSNP: rs878854621
rs878854621
DMD
1 1.000 0.120 X 31679466 frameshift variant T/- del 0.700 0
dbSNP: rs398124040
rs398124040
DMD
2 0.925 0.160 X 31875300 frameshift variant T/-;TT delins 0.700 1.000 3 1990 2016
dbSNP: rs1556035817
rs1556035817
DMD
1 1.000 0.120 X 31177964 splice acceptor variant ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- delins 0.700 1.000 2 2006 2014
dbSNP: rs1557304860
rs1557304860
DMD
1 1.000 0.120 X 32364597 frameshift variant T/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1557362198
rs1557362198
DMD
1 1.000 0.120 X 32448529 frameshift variant T/- delins 0.700 1.000 1 2006 2006
dbSNP: rs878854366
rs878854366
DMD
1 1.000 0.120 X 31169486 frameshift variant CT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518692
rs1057518692
DMD
1 1.000 0.120 X 32343221 frameshift variant C/- delins 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: 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: rs1060502635
rs1060502635
DMD
1 1.000 0.120 X 32545250 frameshift variant -/T delins 0.700 0
dbSNP: rs1060502646
rs1060502646
DMD
1 1.000 0.120 X 32342131 frameshift variant AAATTTGC/- delins 0.700 0