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: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2015 2015
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.020 1.000 2 2011 2019
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs3480
rs3480
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 11 2010 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2016 2016
dbSNP: rs3194051
rs3194051
4 0.851 0.200 5 35876172 missense variant A/G snv 0.24 0.28 0.010 1.000 1 2015 2015
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.958 24 2010 2019
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 1.000 1 2018 2018
dbSNP: rs17047200
rs17047200
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.070 1.000 7 2010 2019