Source: ALL
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: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.100 0.921 38 1993 2019
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.952 21 1995 2019
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.900 0.889 18 2007 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 1.000 16 2004 2018
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.840 0.929 14 2010 2019
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.100 1.000 13 2002 2016
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.800 1.000 13 2009 2018
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.780 1.000 12 2007 2019
dbSNP: rs2305480
rs2305480
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.860 0.900 10 2008 2018
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.090 0.889 9 2007 2018
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.090 0.889 9 2009 2019
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.090 0.778 9 1999 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.080 0.750 8 2004 2020
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.080 1.000 8 2006 2018
dbSNP: rs11071559
rs11071559
4 0.925 0.080 15 60777789 intron variant C/T snv 0.23 0.820 1.000 7 2010 2019
dbSNP: rs1295686
rs1295686
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.840 1.000 7 2010 2018
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.840 1.000 6 2010 2020
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 0.667 6 2002 2012
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.060 1.000 6 2006 2019
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.060 1.000 6 2012 2016
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.060 1.000 6 2010 2018
dbSNP: rs320995
rs320995
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.060 1.000 6 2006 2009
dbSNP: rs37973
rs37973
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.060 0.667 6 2015 2019
dbSNP: rs528557
rs528557
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.060 1.000 6 2008 2019
dbSNP: rs569108
rs569108
8 0.790 0.200 11 60095631 missense variant A/G snv 4.7E-02 7.3E-02 0.060 1.000 6 2006 2016