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: rs9271858
rs9271858
1 1.000 0.040 6 32627446 upstream gene variant A/G snv 0.44 0.800 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs79071878
rs79071878
7 0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del 0.010 1.000 1 2014 2014
dbSNP: rs2234671
rs2234671
7 0.807 0.240 2 218164385 missense variant C/G snv 9.1E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs754692430
rs754692430
1 1.000 0.040 22 37135413 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2012 2016
dbSNP: rs17221959
rs17221959
3 0.882 0.160 2 218387907 synonymous variant C/T snv 7.0E-02 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17549193
rs17549193
1 1.000 0.040 9 134887180 missense variant C/T snv 0.26 0.30 0.010 1.000 1 2015 2015
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2014 2014
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2276631
rs2276631
3 0.882 0.120 2 218384290 missense variant C/T snv 0.23 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2279015
rs2279015
3 0.882 0.080 2 218394547 non coding transcript exon variant G/A snv 0.51 0.020 1.000 2 2015 2019
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.020 1.000 2 2014 2019
dbSNP: rs4674259
rs4674259
1 1.000 0.040 2 218126282 5 prime UTR variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3138060
rs3138060
1 1.000 0.040 2 218166777 intron variant G/C snv 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs2103816
rs2103816
1 1.000 0.040 6 170366925 intron variant T/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3024498
rs3024498
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs9460106
rs9460106
1 1.000 0.040 6 170306872 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17235416
rs17235416
6 0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 0.010 1.000 1 2019 2019