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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.750 8 2005 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.750 8 2005 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.050 1.000 5 2004 2015
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.040 1.000 4 2014 2018
dbSNP: rs4430796
rs4430796
HNF1B
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.730 1.000 3 2011 2018
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.020 1.000 2 2011 2013
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: 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: 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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2009 2013
dbSNP: rs121913476
rs121913476
FGFR2
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs1740828
rs1740828 		2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.710 1.000 2 2016 2018
dbSNP: rs1870050
rs1870050
GLDN
5 0.827 0.160 15 51344354 intron variant A/C snv 6.0E-02 0.020 1.000 2 2007 2007
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2008 2009
dbSNP: rs4733613
rs4733613 		1 1.000 0.080 8 128587032 intergenic variant C/G snv 0.86 0.700 1.000 2 2016 2018
dbSNP: rs727479
rs727479
CYP19A1 ; MIR4713 ; MIR4713HG
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.020 1.000 2 2009 2016
dbSNP: rs7501939
rs7501939
HNF1B
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.710 1.000 2 2011 2012
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
dbSNP: rs937213
rs937213
EIF2AK4
3 1.000 0.080 15 40029923 intron variant T/C snv 0.31 0.700 1.000 2 2016 2018
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2011 2017
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs10431923
rs10431923
CDH1
2 0.925 0.120 16 68805360 intron variant G/T snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1045242
rs1045242
TNFAIP8
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs10502289
rs10502289
ENOSF1
2 0.925 0.080 18 676789 intron variant A/T snv 0.15 0.010 1.000 1 2009 2009