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: rs104894787
rs104894787
DMD
3 0.882 0.160 X 31178784 stop gained G/A snv 0.700 1.000 8 1992 2015
dbSNP: rs104894790
rs104894790
DMD
2 0.925 0.160 X 31178751 stop gained G/A snv 0.700 1.000 8 1993 2009
dbSNP: rs104894797
rs104894797
DMD
1 1.000 0.040 X 31206663 stop gained G/A snv 0.700 1.000 9 1998 2010
dbSNP: rs1057522454
rs1057522454
DMD
1 1.000 0.040 X 32645107 stop gained C/A;T snv 5.5E-06 0.700 1.000 2 2011 2017
dbSNP: rs1060502615
rs1060502615
DMD
1 1.000 0.040 X 32454659 splice region variant T/A snv 0.700 1.000 3 2006 2011
dbSNP: rs1060502620
rs1060502620
DMD
1 1.000 0.040 X 31932180 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502626
rs1060502626
DMD
1 1.000 0.040 X 31147274 splice donor variant C/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1060502629
rs1060502629
DMD
1 1.000 0.040 X 32573796 stop gained C/T snv 0.700 1.000 2 2006 2009
dbSNP: rs1060502639
rs1060502639
DMD
1 1.000 0.040 X 32485057 stop gained G/A;C;T snv 5.5E-06; 1.1E-05 0.700 1.000 2 2010 2011
dbSNP: rs1060502659
rs1060502659
DMD
1 1.000 0.040 X 31875217 frameshift variant GT/- del 0.700 0
dbSNP: rs1060502661
rs1060502661
DMD
1 1.000 0.040 X 32545250 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs128625226
rs128625226
DMD
1 1.000 0.040 X 32454796 stop gained C/A snv 0.700 0
dbSNP: rs128625227
rs128625227
DMD
1 1.000 0.040 X 32484931 stop gained C/A;T snv 0.700 0
dbSNP: rs128625228
rs128625228
DMD
1 1.000 0.040 X 32345978 stop gained G/A snv 0.700 1.000 3 1992 2010
dbSNP: rs128625229
rs128625229
DMD
1 1.000 0.040 X 31444621 stop gained G/A snv 0.700 1.000 3 1992 2013
dbSNP: rs128625230
rs128625230
DMD
1 1.000 0.040 X 31875331 stop gained G/A snv 0.700 0
dbSNP: rs128626231
rs128626231
DMD
1 1.000 0.040 X 32849753 missense variant A/C 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: rs128626233
rs128626233
DMD
1 1.000 0.040 X 32849736 stop gained G/A snv 0.700 1.000 2 1994 2013
dbSNP: rs128626234
rs128626234
DMD
1 1.000 0.040 X 32844794 stop gained G/A snv 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 1.000 4 1994 2013
dbSNP: rs128626238
rs128626238
DMD
1 1.000 0.040 X 32699219 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs128626239
rs128626239
DMD
1 1.000 0.040 X 32699195 stop gained C/A snv 0.700 0
dbSNP: rs128626241
rs128626241
DMD
2 0.925 0.160 X 32595870 stop gained G/A snv 0.700 0
dbSNP: rs128626242
rs128626242
DMD
1 1.000 0.040 X 32565742 stop gained C/G;T snv 5.5E-06 0.700 0