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: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 < 0.001 1 2007 2007
dbSNP: rs1065780
rs1065780
IGFBP1
1 1.000 0.040 7 45888078 upstream gene variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs10794288
rs10794288
MUC2
1 1.000 0.040 11 1086825 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10835638
rs10835638
FSHB ; LOC105376607
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2016 2016
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 2011 2011
dbSNP: rs10902088
rs10902088
MUC2
2 1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73 0.010 1.000 1 2012 2012
dbSNP: rs10953316
rs10953316
MUC17
1 1.000 0.040 7 101038481 synonymous variant A/C;G;T snv 8.0E-06; 0.64 0.010 1.000 1 2015 2015
dbSNP: rs11031006
rs11031006
LOC105376607
8 0.882 0.120 11 30204981 intron variant G/A snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1104760
rs1104760
MUC4
1 1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs11245954
rs11245954
MUC2
1 1.000 0.040 11 1107170 non coding transcript exon variant A/G snv 6.7E-02 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs113593938
rs113593938
DNMT3L ; DNMT3L-AS1
7 0.790 0.200 21 44250907 missense variant C/T snv 3.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs11592737
rs11592737
CYP2C19
2 0.925 0.040 10 94843657 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1159327
rs1159327
ESR1
1 1.000 0.040 6 151726887 intron variant C/T snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2019 2019
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs1181860747
rs1181860747
INSR
10 0.776 0.240 19 7122961 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs11977660
rs11977660
EGFR
1 1.000 0.040 7 55094643 intron variant T/C snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs12030576
rs12030576 		2 1.000 0.040 1 115274600 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1203495492
rs1203495492
KCNQ2
1 1.000 0.040 20 63408489 missense variant C/T snv 2.1E-05 0.010 1.000 1 2012 2012