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: rs41279766
rs41279766
2 0.925 0.080 2 118970217 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.020 0.500 2 2018 2019
dbSNP: rs1915087
rs1915087
2 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 0.020 1.000 2 2015 2018
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1153879
rs1153879
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs17036188
rs17036188
3 0.882 0.120 3 12299426 intron variant T/C snv 4.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs17281995
rs17281995
11 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs2332096
rs2332096
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2715267
rs2715267
2 0.925 0.080 3 122052011 upstream gene variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2972164
rs2972164
3 0.925 0.080 3 12292917 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4684846
rs4684846
3 0.882 0.080 3 12297350 intron variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2008 2015
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs12508721
rs12508721
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016