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: 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: rs11224561
rs11224561
PGR
2 0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv 0.020 1.000 2 2009 2011
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: rs11263763
rs11263763
HNF1B
6 0.882 0.200 17 37743574 intron variant A/G snv 0.43 0.800 1.000 2 2011 2016
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: rs1129506
rs1129506
EVI2A ; NF1
1 1.000 0.080 17 31319014 missense variant G/A;C snv 0.59; 6.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2012 2012
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.750 8 2005 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
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: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
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: rs1156807933
rs1156807933
MAX ; LOC100506321
3 0.925 0.080 14 65093799 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
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: rs11651052
rs11651052
HNF1B
7 0.851 0.200 17 37742390 intron variant G/A snv 0.50 0.800 1.000 2 2011 2016
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