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: rs1060499548
rs1060499548
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs879253753
rs879253753
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs886041125
rs886041125
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs1425998598
rs1425998598
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1555174708
rs1555174708
4 0.925 12 48916993 frameshift variant A/- del 0.700 0
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554888939
rs1554888939
58 0.683 0.640 9 137798823 missense variant G/T snv 0.700 0
dbSNP: rs794727774
rs794727774
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs796052505
rs796052505
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs1556009247
rs1556009247
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs786200952
rs786200952
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1555038111
rs1555038111
37 0.701 0.480 11 118478153 stop gained T/G snv 0.700 0
dbSNP: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1559155954
rs1559155954
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs180177135
rs180177135
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs368869806
rs368869806
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0