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: rs7543472
rs7543472
1 1.000 0.040 1 16113897 regulatory region variant C/A;G;T snv 0.020 1.000 2 2012 2016
dbSNP: rs11260867
rs11260867
1 1.000 0.040 1 16115233 regulatory region variant C/G snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs139787163
rs139787163
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs3754334
rs3754334
2 0.925 0.040 1 16125272 synonymous variant G/A snv 0.28 0.24 0.010 < 0.001 1 2012 2012
dbSNP: rs532063800
rs532063800
1 1.000 0.040 1 9245310 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs543287988
rs543287988
1 1.000 0.040 1 9245277 missense variant G/A snv 4.4E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs587783070
rs587783070
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs746066696
rs746066696
2 0.925 0.080 1 43949663 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs749808170
rs749808170
1 1.000 0.040 1 9245103 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs864309688
rs864309688
3 0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1463326176
rs1463326176
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
dbSNP: rs28931605
rs28931605
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs121909596
rs121909596
3 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018
dbSNP: rs121909595
rs121909595
3 0.925 0.040 2 208124321 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909598
rs121909598
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs137853924
rs137853924
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs139609998
rs139609998
1 1.000 0.040 2 208145915 missense variant C/A;G snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs140372256
rs140372256
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs150857132
rs150857132
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2289917
rs2289917
1 1.000 0.040 2 208146167 upstream gene variant G/A;C snv 0.33; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs398122392
rs398122392
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs398122944
rs398122944
4 0.851 0.200 2 208128257 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs587778872
rs587778872
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs61751949
rs61751949
2 0.925 0.200 2 208129550 missense variant C/T snv 1.7E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs750872744
rs750872744
2 0.925 0.040 2 208128325 stop gained C/A;T snv 3.6E-05 0.010 1.000 1 2016 2016