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: rs1060502648
rs1060502648
DMD
1 1.000 0.120 X 31209627 frameshift variant A/- del 0.700 0
dbSNP: rs1060502652
rs1060502652
DMD
1 1.000 0.120 X 33020191 frameshift variant CT/- delins 0.700 0
dbSNP: rs1060502653
rs1060502653
DMD
1 1.000 0.120 X 31204113 splice acceptor variant TCTACAAAGG/- delins 0.700 0
dbSNP: rs1060502656
rs1060502656
DMD
1 1.000 0.120 X 32287702 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1064325
rs1064325
DMD
1 1.000 0.120 X 32345999 stop gained G/A;T snv 0.700 0
dbSNP: rs1064792967
rs1064792967
DMD
1 1.000 0.120 X 31820041 frameshift variant GGT/AAAC delins 0.700 0
dbSNP: rs1239018406
rs1239018406
DMD
1 1.000 0.120 X 32699111 splice donor variant C/A;T snv 0.700 0
dbSNP: rs128626232
rs128626232
DMD
2 0.925 0.160 X 32545310 stop gained G/A;C snv 1.1E-05 0.700 0
dbSNP: rs128626235
rs128626235
DMD
2 0.925 0.160 X 32816565 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs128626241
rs128626241
DMD
2 0.925 0.160 X 32595870 stop gained G/A snv 0.700 0
dbSNP: rs128626245
rs128626245
DMD
2 0.925 0.160 X 32468539 stop gained G/A snv 0.700 0
dbSNP: rs128626248
rs128626248
DMD
2 0.925 0.160 X 32389605 stop gained G/A snv 0.700 0
dbSNP: rs128626251
rs128626251
DMD
2 0.925 0.160 X 32216981 stop gained G/A snv 0.700 0
dbSNP: rs128626254
rs128626254
DMD
2 0.925 0.160 X 31323625 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs128627256
rs128627256
DMD
3 0.882 0.160 X 31478330 stop gained G/A snv 0.700 0
dbSNP: rs1340365803
rs1340365803
DMD
1 1.000 0.120 X 32809553 stop gained C/A;T snv 9.5E-06 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: rs146880270
rs146880270
DMD
2 0.925 0.160 X 32438312 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs1556028034
rs1556028034
DMD
1 1.000 0.120 X 31172375 frameshift variant T/- delins 0.700 0
dbSNP: rs1556035795
rs1556035795
DMD
1 1.000 0.120 X 31177956 frameshift variant A/- del 0.700 0
dbSNP: rs1556046080
rs1556046080
DMD
1 1.000 0.120 X 31182822 frameshift variant GGGCAGCCAC/- delins 0.700 0
dbSNP: rs1556256329
rs1556256329
DMD
1 1.000 0.120 X 31206581 splice donor variant C/T snv 0.700 0
dbSNP: rs1556656456
rs1556656456
DMD
1 1.000 0.120 X 31478359 frameshift variant -/C delins 0.700 0
dbSNP: rs1556656487
rs1556656487
DMD
1 1.000 0.120 X 31478368 frameshift variant G/- delins 0.700 0
dbSNP: rs1556656818
rs1556656818
DMD
1 1.000 0.120 X 31479046 frameshift variant -/A delins 0.700 0