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: 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: rs128626233
rs128626233
DMD
1 1.000 0.040 X 32849736 stop gained G/A snv 0.700 1.000 2 1994 2013
dbSNP: rs1569230406
rs1569230406
DMD
1 1.000 0.040 X 32573830 stop gained C/T snv 0.700 1.000 2 2005 2009
dbSNP: rs1569562941
rs1569562941
DMD
1 1.000 0.040 X 32448563 stop gained G/A;C snv 0.700 1.000 2 2001 2009
dbSNP: rs398123865
rs398123865
DMD
1 1.000 0.040 X 32573834 stop gained G/A snv 0.700 1.000 2 2004 2011
dbSNP: rs398123935
rs398123935
DMD
3 0.882 0.160 X 32463576 stop gained G/A snv 0.700 1.000 2 2015 2017
dbSNP: rs748769566
rs748769566
DMD
1 1.000 0.040 X 32389536 stop gained G/A;C;T snv 5.5E-06 0.700 1.000 2 2009 2011
dbSNP: rs777864641
rs777864641
DMD
1 1.000 0.040 X 32348504 stop gained C/A;G;T snv 5.6E-06 0.700 1.000 2 2008 2010
dbSNP: rs863224979
rs863224979
DMD
1 1.000 0.040 X 32644139 stop gained G/A;C snv 5.6E-06 0.700 1.000 2 2001 2010
dbSNP: rs863224985
rs863224985
DMD
1 1.000 0.040 X 32518085 stop gained C/A snv 0.700 1.000 2 2013 2017
dbSNP: rs863224999
rs863224999
DMD
2 0.925 0.160 X 32380626 stop gained G/A snv 0.700 1.000 2 2010 2013
dbSNP: rs863225005
rs863225005
DMD
1 1.000 0.040 X 32342105 stop gained G/A snv 0.700 1.000 2 2005 2009
dbSNP: rs863225008
rs863225008
DMD
1 1.000 0.040 X 31836813 stop gained C/A snv 0.700 1.000 2 2007 2009
dbSNP: rs1060502661
rs1060502661
DMD
1 1.000 0.040 X 32545250 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs128626246
rs128626246
DMD
1 1.000 0.040 X 32464674 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1557218131
rs1557218131
DMD
1 1.000 0.040 X 32216946 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1569562936
rs1569562936
DMD
1 1.000 0.040 X 32448500 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs398123997
rs398123997
DMD
1 1.000 0.040 X 32342249 stop gained C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs398124050
rs398124050
DMD
1 1.000 0.040 X 31729634 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs398124072
rs398124072
DMD
1 1.000 0.040 X 31496892 stop gained G/A snv 0.700 1.000 1 1995 1995
dbSNP: rs398124092
rs398124092
DMD
1 1.000 0.040 X 31223071 stop gained G/A snv 0.700 1.000 1 2009 2009
dbSNP: rs756949497
rs756949497
DMD
1 1.000 0.040 X 32484925 stop gained G/A;T snv 1.1E-05 0.700 1.000 1 2008 2008
dbSNP: rs762394978
rs762394978
DMD
1 1.000 0.040 X 31679492 stop gained C/G;T snv 0.700 1.000 1 2006 2006
dbSNP: rs762860653
rs762860653
DMD
1 1.000 0.040 X 32501767 stop gained G/A;C snv 3.4E-05 0.700 1.000 1 2005 2005