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: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1057519945
rs1057519945
POLE
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1063539
rs1063539
ADIPOQ ; ADIPOQ-AS1
5 0.827 0.360 3 186857603 3 prime UTR variant G/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1065779
rs1065779
CYP19A1 ; MIR4713HG
3 0.882 0.120 15 51212614 intron variant A/C;T snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs10733710
rs10733710
TGFBR1
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10835920
rs10835920 		1 1.000 0.080 11 32468118 intergenic variant C/T snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs10850382
rs10850382
LOC107984437
1 1.000 0.080 12 114776743 downstream gene variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs10895068
rs10895068
PGR ; PGR-AS1
14 0.752 0.240 11 101129483 5 prime UTR variant C/T snv 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs10908278
rs10908278
HNF1B
2 0.925 0.160 17 37739961 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11196418
rs11196418
CASP7
4 0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445
CASP7
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11263761
rs11263761
HNF1B
2 1.000 0.080 17 37737784 intron variant A/G snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs112843513
rs112843513
TOPBP1
4 0.851 0.120 3 133600730 3 prime UTR variant G/- del 0.010 1.000 1 2014 2014
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs113998067
rs113998067 		1 1.000 0.080 1 37607755 downstream gene variant T/C snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1156920296
rs1156920296
HFE ; LOC108783645
2 0.925 0.080 6 26092918 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs11583244
rs11583244 		1 1.000 0.080 1 225764772 regulatory region variant C/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs11657964
rs11657964
HNF1B
1 1.000 0.080 17 37740776 intron variant G/A snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs11658063
rs11658063
HNF1B
5 0.851 0.120 17 37743881 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs117039649
rs117039649
MDM2
4 0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02 0.010 1.000 1 2018 2018