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: rs11538209
rs11538209
ALB
2 1.000 0.120 4 73404356 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1345365
rs1345365
1 1.000 0.120 7 37161008 intron variant G/A snv 0.61 0.010 < 0.001 1 2019 2019
dbSNP: rs1400094618
rs1400094618
MOK
3 0.882 0.240 14 102229508 missense variant A/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2001 2001
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2019 2019
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2069840
rs2069840
13 0.742 0.360 7 22728953 intron variant C/G snv 0.27 0.010 < 0.001 1 2019 2019
dbSNP: rs2229569
rs2229569
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 < 0.001 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs6495446
rs6495446
6 0.851 0.200 15 79862640 intron variant C/T snv 0.31 0.010 < 0.001 1 2012 2012
dbSNP: rs7211818
rs7211818
5 0.827 0.200 17 80715103 intron variant A/G snv 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs7782979
rs7782979
2 0.925 0.160 7 36865445 intron variant C/A snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs9674559
rs9674559
2 0.925 0.160 17 80741808 intron variant A/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs994411260
rs994411260
2 0.925 0.160 19 10194877 missense variant G/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2015 2019
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.020 0.500 2 2015 2019
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2012 2017
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 0.500 2 2011 2013
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 0.500 2 1998 2007
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.060 0.667 6 2007 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 0.714 7 2007 2017
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.050 0.800 5 1996 2019