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: rs1057518805
rs1057518805
2 1 202596928 inframe deletion ATAGTC/- delins 0.700 0
dbSNP: rs1057518957
rs1057518957
4 1.000 0.040 2 232535143 missense variant G/T snv 0.700 0
dbSNP: rs1057518958
rs1057518958
4 1.000 0.040 2 232531353 frameshift variant T/- del 0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1064795559
rs1064795559
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1064795760
rs1064795760
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1217391623
rs1217391623
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs121908552
rs121908552
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1256028809
rs1256028809
5 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
dbSNP: rs138977195
rs138977195
5 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1554699491
rs1554699491
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555358382
rs1555358382
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555377415
rs1555377415
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs1555420508
rs1555420508
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs1555421871
rs1555421871
6 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1566785444
rs1566785444
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs1569548274
rs1569548274
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs267607261
rs267607261
28 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0