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: rs1555174708
rs1555174708
4 0.925 12 48916993 frameshift variant A/- del 0.700 0
dbSNP: rs1556009247
rs1556009247
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1567368243
rs1567368243
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1560092224
rs1560092224
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1334099693
rs1334099693
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs1561964103
rs1561964103
7 0.882 0.080 6 50836108 frameshift variant G/- delins 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: rs1555380716
rs1555380716
5 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
dbSNP: rs1554297905
rs1554297905
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1559155954
rs1559155954
9 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs1553544133
rs1553544133
6 0.851 0.200 2 199308845 frameshift variant TC/- delins 0.700 0
dbSNP: rs1555429629
rs1555429629
23 0.763 0.200 15 40729632 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: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant 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: rs794727774
rs794727774
11 0.827 0.240 1 23848684 stop gained C/T snv 0.700 0
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1554121443
rs1554121443
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1569525894
rs1569525894
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs879253753
rs879253753
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 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: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs387907141
rs387907141
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0