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: rs6495309
rs6495309
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.740 1.000 7 2008 2014
dbSNP: rs4488809
rs4488809
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.750 1.000 6 2011 2015
dbSNP: rs967591
rs967591
4 0.851 0.080 19 45406676 5 prime UTR variant G/A;C;T snv 0.22; 6.7E-06 0.060 1.000 6 2012 2018
dbSNP: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.040 1.000 4 2012 2015
dbSNP: rs11638372
rs11638372
5 0.925 0.080 15 78691217 intron variant C/A;G;T snv 0.28 0.700 1.000 4 2008 2012
dbSNP: rs1394371
rs1394371
4 0.925 0.080 15 78432127 intergenic variant C/T snv 0.22 0.700 1.000 4 2008 2012
dbSNP: rs1996371
rs1996371
4 1.000 0.080 15 78664464 intron variant T/C snv 0.28 0.700 1.000 4 2008 2012
dbSNP: rs2036534
rs2036534
8 0.827 0.080 15 78534606 3 prime UTR variant T/C snv 0.26 0.710 1.000 4 2008 2012
dbSNP: rs4887077
rs4887077
4 1.000 0.080 15 78686022 intron variant C/T snv 0.28 0.700 1.000 4 2008 2012
dbSNP: rs6495314
rs6495314
4 0.925 0.080 15 78668187 intron variant A/C snv 0.35 0.700 1.000 4 2008 2012
dbSNP: rs12910984
rs12910984
8 0.827 0.080 15 78599285 intron variant G/A;C;T snv 0.710 1.000 3 2009 2012
dbSNP: rs146795390
rs146795390
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs2352028
rs2352028
6 0.851 0.080 13 91792975 intron variant C/G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs4887053
rs4887053
4 0.925 0.080 15 78420357 regulatory region variant A/C;T snv 0.700 1.000 3 2008 2012
dbSNP: rs931794
rs931794
7 0.851 0.080 15 78533838 3 prime UTR variant G/A;C snv 0.030 1.000 3 2009 2015
dbSNP: rs938682
rs938682
7 0.851 0.080 15 78604205 intron variant G/A snv 0.72 0.710 1.000 3 2009 2016
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.020 1.000 2 2017 2019
dbSNP: rs1062980
rs1062980
8 0.827 0.080 15 78500185 3 prime UTR variant T/C snv 0.39 0.710 1.000 2 2009 2017
dbSNP: rs11540478
rs11540478
4 0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06 0.020 1.000 2 2017 2018
dbSNP: rs12441998
rs12441998
3 0.925 0.080 15 78637030 intron variant G/A snv 0.63 0.700 1.000 2 2009 2012
dbSNP: rs125555
rs125555
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.020 1.000 2 2005 2008
dbSNP: rs12594247
rs12594247
3 0.925 0.080 15 78654291 intron variant C/T snv 0.14 0.700 1.000 2 2008 2012
dbSNP: rs13009079
rs13009079
3 0.882 0.080 2 174396420 intron variant T/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs1316971
rs1316971
3 0.925 0.080 15 78638168 intron variant A/G;T snv 0.62 0.700 1.000 2 2009 2012
dbSNP: rs156641
rs156641
3 0.882 0.080 19 48128151 intron variant C/T snv 0.29 0.020 0.500 2 2008 2015