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: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2734849
rs2734849
1 1.000 0.080 11 113399438 missense variant A/C;G snv 4.5E-06; 0.39 0.010 1.000 1 2009 2009
dbSNP: rs28399433
rs28399433
7 0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2930357
rs2930357
1 1.000 0.080 8 3852138 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3735757
rs3735757
1 1.000 0.080 8 27464080 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2011 2011
dbSNP: rs3750399
rs3750399
1 1.000 0.080 9 89042048 synonymous variant T/A;C snv 0.71 0.010 1.000 1 2007 2007
dbSNP: rs378042
rs378042
1 1.000 0.080 5 111524099 intron variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs3793790
rs3793790
2 0.925 0.120 10 49632690 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs4105144
rs4105144
7 0.827 0.160 19 40852719 intron variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs45459594
rs45459594
1 1.000 0.080 19 41006966 missense variant C/G;T snv 8.0E-06; 1.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs4758416
rs4758416
1 1.000 0.080 11 6412919 intron variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs4845652
rs4845652
1 1.000 0.080 1 154565729 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs56175056
rs56175056
1 1.000 0.080 20 63350405 missense variant G/A;T snv 3.3E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs588765
rs588765
6 0.827 0.200 15 78573083 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs6484320
rs6484320
2 1.000 0.080 11 27681641 intron variant T/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs660652
rs660652
3 1.000 0.080 15 78595490 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs68081839
rs68081839
3 0.882 0.080 11 105762027 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs72552266
rs72552266
3 0.882 0.200 19 41089049 stop gained C/G;T snv 4.0E-06; 5.8E-03 0.010 1.000 1 2011 2011
dbSNP: rs749747912
rs749747912
1 1.000 0.080 15 78618880 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs774507706
rs774507706
1 1.000 0.080 6 154091093 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs777160724
rs777160724
1 1.000 0.080 11 113396169 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011