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: rs137854521
rs137854521
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1556880327
rs1556880327
DMD
2 X 31774182 frameshift variant -/T delins 0.700 0
dbSNP: rs886044913
rs886044913
1 9 116699102 frameshift variant -/TA delins 0.700 0
dbSNP: rs80338800
rs80338800
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs886044915
rs886044915
1 11 22236272 missense variant A/C snv 0.700 0
dbSNP: rs776474397
rs776474397
1 11 22227300 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1114167439
rs1114167439
DMD
1 X 32438240 splice donor variant C/- delins 0.700 0
dbSNP: rs1553521119
rs1553521119
5 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
dbSNP: rs116840786
rs116840786
1 3 8733962 missense variant C/A;T snv 0.800 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs201892814
rs201892814
8 1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 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: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs768090444
rs768090444
3 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs770905160
rs770905160
5 0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs886042604
rs886042604
DMD
3 1.000 0.120 X 33020138 splice donor variant C/G;T snv 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: rs1553846331
rs1553846331
4 0.925 0.120 4 3473504 missense variant C/T snv 0.700 0
dbSNP: rs201518227
rs201518227
13 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
dbSNP: rs398123383
rs398123383
4 1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-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: rs756015202
rs756015202
4 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
dbSNP: rs886039785
rs886039785
DMD
7 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
dbSNP: rs1555452876
rs1555452876
5 1.000 16 2106222 inframe deletion CTC/- delins 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