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: rs1057516028
rs1057516028
DMD
1 X 32287680 stop gained G/A snv 0.700 0
dbSNP: rs1114167437
rs1114167437
DMD
1 X 31178681 frameshift variant T/- del 0.700 0
dbSNP: rs1114167439
rs1114167439
DMD
1 X 32438240 splice donor variant C/- delins 0.700 0
dbSNP: rs116840786
rs116840786
1 3 8733962 missense variant C/A;T snv 0.800 0
dbSNP: rs1555606976
rs1555606976
1 17 39665448 frameshift variant GT/- delins 0.700 0
dbSNP: rs1556880327
rs1556880327
DMD
2 X 31774182 frameshift variant -/T delins 0.700 0
dbSNP: rs1556980528
rs1556980528
DMD
1 X 32738791 intron variant T/C snv 0.700 0
dbSNP: rs1559697515
rs1559697515
1 3 49723016 missense variant T/C snv 0.700 0
dbSNP: rs1567825175
rs1567825175
GAA
1 17 80104590 stop gained G/T snv 0.700 0
dbSNP: rs776474397
rs776474397
1 11 22227300 splice acceptor variant A/G snv 0.700 0
dbSNP: rs886044913
rs886044913
1 9 116699102 frameshift variant -/TA delins 0.700 0
dbSNP: rs886044915
rs886044915
1 11 22236272 missense variant A/C snv 0.700 0
dbSNP: rs886044916
rs886044916
DMD
1 X 31209534 missense variant T/C snv 0.700 0
dbSNP: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs104894080
rs104894080
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs1208636573
rs1208636573
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs622288
rs622288
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs137854521
rs137854521
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1555735545
rs1555735545
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs116840778
rs116840778
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 0
dbSNP: rs770905160
rs770905160
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs116840789
rs116840789
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.700 0