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: rs1057518934
rs1057518934
8 0.846 0.214 15 28211095 frameshift variant AG/A in-del 0.700 1 2015 2015
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A,G,T snp 5.5E-06; 5.5E-06 0.700 1 2015 2015
dbSNP: rs1060503383
rs1060503383
14 0.923 0.179 6 33441318 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs28934908
rs28934908
21 0.715 0.250 X 154031409 missense variant G/A,T snp 5.5E-06 0.700 1 2015 2015
dbSNP: rs74315442
rs74315442
11 0.821 0.179 21 43774297 stop gained G/A snp 4.0E-05 9.6E-05 0.700 1 2015 2015
dbSNP: rs886043676
rs886043676
DMD
4 1.000 0.107 X 31178766 frameshift variant AG/A in-del 0.700 1 2015 2015
dbSNP: rs1057518776
rs1057518776
4 1.000 0.071 14 101986027 missense variant T/A snp 0.700 0
dbSNP: rs876661151
rs876661151
6 0.923 0.036 12 13608611 missense variant C/A,T snp 0.700 0