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: rs1057518776
rs1057518776
4 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
dbSNP: rs1057518934
rs1057518934
8 0.851 0.240 15 28211095 frameshift variant G/- delins 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: rs1060503383
rs1060503383
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1131692154
rs1131692154
6 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
dbSNP: rs121918467
rs121918467
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs1247665387
rs1247665387
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs1553603732
rs1553603732
DES
10 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
dbSNP: rs1554121671
rs1554121671
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1555247805
rs1555247805
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1555740394
rs1555740394
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1555928716
rs1555928716
7 0.925 X 20167669 stop gained G/A snv 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1564919048
rs1564919048
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
dbSNP: rs376103091
rs376103091
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs386834055
rs386834055
9 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
dbSNP: rs398123640
rs398123640
4 1.000 0.120 21 45989093 missense variant G/A;C snv 0.700 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs587778779
rs587778779
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs61750240
rs61750240
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs672601334
rs672601334
18 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
dbSNP: rs730881014
rs730881014
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0