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: rs886042110
rs886042110
DYSF
1 1.000 0.120 2 71661900 intron variant G/C;T snv 0.700 1.000 2 2014 2015
dbSNP: rs786205083
rs786205083
DYSF
1 1.000 0.120 2 71590178 intron variant A/G snv 0.700 0
dbSNP: rs746873768
rs746873768
DYSF
4 0.851 0.120 2 71553092 stop gained C/T snv 1.2E-05 7.0E-06 0.700 1.000 6 2000 2014
dbSNP: rs369607332
rs369607332
DYSF
2 0.925 0.120 2 71570679 stop gained C/A;T snv 1.6E-05; 2.4E-05 0.700 1.000 3 2005 2016
dbSNP: rs398123781
rs398123781
DYSF
4 0.851 0.120 2 71590212 stop gained TG/AA mnv 0.700 1.000 3 2004 2015
dbSNP: rs1064794020
rs1064794020
DYSF
2 0.925 0.120 2 71679173 stop gained C/T snv 0.700 1.000 2 2010 2016
dbSNP: rs121908959
rs121908959
DYSF
4 0.851 0.120 2 71674242 stop gained C/T snv 1.2E-05 2.1E-05 0.700 1.000 2 2005 2010
dbSNP: rs1380642629
rs1380642629
DYSF
1 1.000 0.120 2 71598644 stop gained C/T snv 4.0E-06 0.700 1.000 2 2015 2017
dbSNP: rs1553422723
rs1553422723
DYSF
1 1.000 0.120 2 71682608 stop gained G/A snv 0.700 1.000 2 2015 2016
dbSNP: rs1553521017
rs1553521017
DYSF
1 1.000 0.120 2 71513784 stop gained C/T snv 0.700 1.000 2 2009 2016
dbSNP: rs373585652
rs373585652
DYSF
2 0.925 0.120 2 71513868 stop gained C/G;T snv 8.0E-06; 8.0E-06 0.700 1.000 2 2005 2010
dbSNP: rs139258703
rs139258703
DYSF
1 1.000 0.120 2 71539207 stop gained C/A;G;T snv 2.8E-05; 3.2E-05 0.700 1.000 1 2006 2006
dbSNP: rs199543257
rs199543257
DYSF
2 0.925 0.120 2 71564196 stop gained C/A;T snv 2.0E-05 0.700 1.000 1 2012 2012
dbSNP: rs202044973
rs202044973
DYSF
2 0.925 0.120 2 71535282 stop gained C/A;T snv 1.2E-05; 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs398123789
rs398123789
DYSF
2 0.925 0.120 2 71658995 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs727503911
rs727503911
DYSF
2 0.925 0.120 2 71600831 stop gained C/T snv 4.0E-06; 1.2E-05 2.8E-05 0.700 1.000 1 2005 2005
dbSNP: rs746315830
rs746315830
DYSF
1 1.000 0.120 2 71503308 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs763674597
rs763674597
DYSF
1 1.000 0.120 2 71600804 stop gained G/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs766016391
rs766016391
DYSF
2 0.925 0.120 2 71643988 stop gained G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs778092738
rs778092738
DYSF
1 1.000 0.120 2 71611329 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs794727636
rs794727636
DYSF
1 1.000 0.120 2 71503242 stop gained C/T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs886044411
rs886044411
DYSF
1 1.000 0.120 2 71613408 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1553422709
rs1553422709
DYSF
1 1.000 0.120 2 71682607 stop gained G/A snv 0.700 0
dbSNP: rs1558613592
rs1558613592
DYSF
1 1.000 0.120 2 71611278 stop gained C/T snv 0.700 0
dbSNP: rs758180890
rs758180890
DYSF
4 0.851 0.120 2 71526295 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 2.4E-05 0.700 0