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: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 1.000 14 2011 2018
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.040 1.000 4 2016 2019
dbSNP: rs236918
rs236918
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2014 2017
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.030 0.667 3 2013 2018
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.030 0.667 3 2012 2017
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs12304647
rs12304647
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.810 0.500 2 2012 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.020 1.000 2 2012 2013
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.810 1.000 2 2012 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs972427414
rs972427414
MPO
3 0.882 0.120 17 58279379 missense variant A/G snv 0.020 1.000 2 2011 2012
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10146249
rs10146249
1 1.000 0.080 14 92074996 intron variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1041740
rs1041740
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs10433937
rs10433937
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1049305
rs1049305
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1054690270
rs1054690270
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1059122
rs1059122
3 0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46 0.010 1.000 1 2019 2019