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: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2013 2019
dbSNP: rs2236857
rs2236857
1 1.000 0.080 1 28835097 intron variant T/C snv 0.28 0.020 1.000 2 2014 2019
dbSNP: rs3778150
rs3778150
2 0.925 0.080 6 154062523 intron variant T/C snv 0.17 0.020 1.000 2 2015 2017
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2013 2014
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10494334
rs10494334
1 1.000 0.080 1 163535374 intergenic variant G/A snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1122079
rs1122079
1 1.000 0.080 17 65218385 intron variant A/C;T snv 0.010 1.000 1 2015 2015
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: 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: rs1389752
rs1389752
2 0.925 0.080 9 13235288 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs1530351
rs1530351
2 0.925 0.080 17 65135491 intron variant G/A;C snv 0.010 1.000 1 2015 2015
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: 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: 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