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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2010
dbSNP: rs200349593
rs200349593
1 1.000 0.040 11 114526440 intron variant -/C;CCACTCTCTTCCTC ins 0.700 1.000 1 2017 2017
dbSNP: rs6017342
rs6017342
3 0.925 0.120 20 44436388 non coding transcript exon variant A/C snv 0.62 0.810 1.000 5 2009 2017
dbSNP: rs17780256
rs17780256
6 0.827 0.120 17 72646784 3 prime UTR variant A/C snv 0.18 0.700 1.000 3 2015 2017
dbSNP: rs4598195
rs4598195
1 1.000 0.040 7 107862996 intergenic variant A/C snv 0.34 0.800 1.000 2 2009 2010
dbSNP: rs10775412
rs10775412
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs1517352
rs1517352
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs1551399
rs1551399
5 0.827 0.120 8 125527723 intron variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs2382817
rs2382817
3 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs360718
rs360718
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs3814057
rs3814057
4 0.925 0.040 3 119818407 3 prime UTR variant A/C snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs61802846
rs61802846
5 0.827 0.120 1 161504083 upstream gene variant A/C snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs7210086
rs7210086
1 1.000 0.040 17 72645559 downstream gene variant A/C snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs72796353
rs72796353
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs798502
rs798502
4 1.000 0.040 7 2750246 intron variant A/C;G snv 0.800 1.000 3 2011 2017
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs200711300
rs200711300
3 0.925 0.040 18 12802118 missense variant A/C;G snv 1.6E-04; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2228055
rs2228055
4 0.851 0.280 11 117994131 missense variant A/C;G snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs4654903
rs4654903
1 1.000 0.040 1 19874497 intergenic variant A/C;G snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs527892258
rs527892258
3 0.925 0.040 16 50723350 missense variant A/C;G snv 1.7E-04; 4.4E-05 0.010 1.000 1 2009 2009