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: rs5860563
rs5860563
3 1.000 0.080 4 99126006 intron variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs58598658
rs58598658
4 0.925 0.080 13 73887725 intron variant -/A;AA delins 0.700 1.000 1 2017 2017
dbSNP: rs141424017
rs141424017
3 1.000 0.080 7 115311376 intergenic variant -/CAA ins 0.700 1.000 1 2019 2019
dbSNP: rs143894582
rs143894582
3 1.000 0.080 12 112469070 intron variant A/-;AA delins 0.010 1.000 1 2018 2018
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2011 2013
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1709819
rs1709819
3 1.000 0.080 21 37663813 intron variant A/C snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs1709820
rs1709820
3 1.000 0.080 21 37663669 intron variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1787396
rs1787396
3 1.000 0.080 21 37664185 intron variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1787398
rs1787398
3 1.000 0.080 21 37665202 intron variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs2835836
rs2835836
3 1.000 0.080 21 37616885 3 prime UTR variant A/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs3743832
rs3743832
4 1.000 0.080 16 9120023 3 prime UTR variant A/C snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs4384980
rs4384980
1 1.000 0.080 3 182741281 upstream gene variant A/C snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs7183893
rs7183893
1 1.000 0.080 15 38704780 intron variant A/C snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs17028615
rs17028615
4 1.000 0.080 4 99150767 intron variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs1709835
rs1709835
3 1.000 0.080 21 37665334 intron variant A/C;G snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs1787404
rs1787404
3 1.000 0.080 21 37677060 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs3752482
rs3752482
2 0.925 0.160 6 36765293 intron variant A/C;G snv 4.0E-06; 0.12 0.010 1.000 1 2015 2015
dbSNP: rs637547
rs637547
1 1.000 0.080 6 124589242 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs735668
rs735668
1 1.000 0.080 2 75135918 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs9378160
rs9378160
3 1.000 0.080 6 31500215 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1332184
rs1332184
1 1.000 0.080 9 21504204 intron variant A/C;G;T snv 0.010 1.000 1 2007 2007