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: 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: 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
dbSNP: rs1182154114
rs1182154114
SULT1A1
2 0.925 0.080 16 28623160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1200003171
rs1200003171
AKT1
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1204038
rs1204038
AR
3 0.882 0.160 X 67568383 intron variant G/A snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs12112075
rs12112075
OGDH
3 0.925 0.080 7 44609201 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1214285376
rs1214285376
XRCC1
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12185157
rs12185157
CDH1
3 0.882 0.120 16 68750684 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913314
rs121913314
SRC
5 0.851 0.120 20 37403359 stop gained C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs121918497
rs121918497
FGFR2
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1233753551
rs1233753551
CYP1B1 ; CYP1B1-AS1
4 0.851 0.160 2 38074751 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1255998
rs1255998
ESR2
6 0.827 0.200 14 64227153 3 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs12934561
rs12934561
IL32
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs12970291
rs12970291 		12 0.763 0.120 18 75305279 intergenic variant G/A snv 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs1337082
rs1337082
LOC105373241
2 0.925 0.080 X 67764173 intergenic variant G/A snv 0.61 0.010 1.000 1 2009 2009