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: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs11606194
rs11606194
1 1.000 0.080 11 113910259 intron variant T/C snv 6.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2011 2011
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs13306221
rs13306221
4 0.851 0.120 11 27701142 intron variant C/T snv 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1389752
rs1389752
2 0.925 0.080 9 13235288 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1530351
rs1530351
2 0.925 0.080 17 65135491 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1534891
rs1534891
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs1650420
rs1650420
2 1.000 0.080 16 10174473 intron variant T/C snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs16917204
rs16917204
5 0.827 0.160 11 27646808 intron variant G/C snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs16917234
rs16917234
2 0.925 0.080 11 27676827 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1714984
rs1714984
1 1.000 0.080 17 12714384 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs17189632
rs17189632
1 1.000 0.080 9 101605720 intron variant T/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2008 2008
dbSNP: rs1816071
rs1816071
2 0.925 0.080 5 161332949 intron variant T/C snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs1867898
rs1867898
1 1.000 0.080 2 133762000 intergenic variant G/A snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs1978340
rs1978340
1 1.000 0.080 2 170813611 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1986513
rs1986513
1 1.000 0.080 4 125146073 intergenic variant A/T snv 8.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1997644
rs1997644
1 1.000 0.080 22 38319217 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2011 2011