Source: ALL
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: rs1556656818
rs1556656818
DMD
1 1.000 0.120 X 31479046 frameshift variant -/A delins 0.700 0
dbSNP: rs1557380496
rs1557380496
DMD
1 1.000 0.120 X 32484988 frameshift variant -/A delins 0.700 0
dbSNP: rs796523999
rs796523999
DMD
1 1.000 0.120 X 32454659 splice donor variant -/A delins 0.700 0
dbSNP: rs1556962271
rs1556962271
DMD
2 0.925 0.120 X 31875197 frameshift variant -/AATG delins 0.700 0
dbSNP: rs1556656456
rs1556656456
DMD
1 1.000 0.120 X 31478359 frameshift variant -/C delins 0.700 0
dbSNP: rs1557079469
rs1557079469
DMD
1 1.000 0.120 X 32844808 frameshift variant -/C delins 0.700 0
dbSNP: rs1557369413
rs1557369413
DMD
1 1.000 0.120 X 32463481 frameshift variant -/CT delins 0.700 0
dbSNP: rs1060502635
rs1060502635
DMD
1 1.000 0.120 X 32545250 frameshift variant -/T delins 0.700 0
dbSNP: rs1556929259
rs1556929259
DMD
1 1.000 0.120 X 32697972 stop gained -/T delins 0.700 0
dbSNP: rs1556930839
rs1556930839
DMD
1 1.000 0.120 X 32699286 frameshift variant -/T delins 0.700 0
dbSNP: rs1557084128
rs1557084128
DMD
1 1.000 0.120 X 32849760 frameshift variant -/T delins 0.700 0
dbSNP: rs863225007
rs863225007
DMD
2 0.925 0.160 X 31968341 frameshift variant -/T delins 0.700 0
dbSNP: rs1060502630
rs1060502630
DMD
1 1.000 0.120 X 31169589 frameshift variant -/TT delins 0.700 0
dbSNP: rs1060502648
rs1060502648
DMD
1 1.000 0.120 X 31209627 frameshift variant A/- del 0.700 0
dbSNP: rs1556035795
rs1556035795
DMD
1 1.000 0.120 X 31177956 frameshift variant A/- del 0.700 0
dbSNP: rs1557359217
rs1557359217
DMD
1 1.000 0.120 X 32441284 frameshift variant A/- del 0.700 0
dbSNP: rs1556930769
rs1556930769
DMD
1 1.000 0.120 X 32699257 stop gained A/C snv 0.700 0
dbSNP: rs1557396600
rs1557396600
DMD
2 0.925 0.120 X 32518006 splice donor variant A/C snv 0.700 0
dbSNP: rs146071084
rs146071084
DMD
2 0.925 0.160 X 32454660 splice donor variant A/C;T snv 0.700 0
dbSNP: rs12547243
rs12547243
ADCY8
1 1.000 0.120 8 130909710 splice region variant A/G snv 0.64 0.58 0.700 1.000 1 2018 2018
dbSNP: rs56979833
rs56979833 		1 1.000 0.120 15 30008518 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1060502641
rs1060502641
DMD
1 1.000 0.120 X 31968337 splice donor variant A/G snv 0.700 0
dbSNP: rs1057524037
rs1057524037
DMD
1 1.000 0.120 X 31206610 stop gained A/G;T snv 5.5E-06 0.700 0
dbSNP: rs1060502627
rs1060502627
DMD
1 1.000 0.120 X 32518024 stop gained A/T snv 0.700 0
dbSNP: rs1557380616
rs1557380616
DMD
2 0.925 0.120 X 32485053 stop gained A/T snv 0.700 0