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: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.020 0.500 2 2017 2018
dbSNP: rs1353855643
rs1353855643
ELAC2
2 0.925 0.080 17 13000197 frameshift variant T/- del 4.0E-06 0.020 0.500 2 2005 2008
dbSNP: rs1446725892
rs1446725892
ELAC2
2 0.925 0.080 17 13000197 missense variant T/C;G snv 4.0E-06; 8.0E-06 0.020 0.500 2 2005 2008
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 0.500 2 2017 2018
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.020 0.500 2 2012 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 0.500 2 2008 2017
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 0.500 2 2010 2019
dbSNP: rs2333227
rs2333227
MPO
15 0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24 0.020 0.500 2 2008 2013
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 0.500 2 2014 2019
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.020 0.500 2 2008 2011
dbSNP: rs531523727
rs531523727
ELAC2
2 0.925 0.080 17 12998442 missense variant C/T snv 1.6E-05 2.1E-05 0.020 0.500 2 2005 2008
dbSNP: rs62113212
rs62113212
KLK3
2 0.925 0.080 19 50857584 non coding transcript exon variant C/G;T snv 0.710 0.500 2 2011 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 0.500 2 2013 2018
dbSNP: rs72551387
rs72551387
UGT2B17
3 0.882 0.080 4 68568232 missense variant C/A snv 5.7E-03 5.7E-03 0.020 0.500 2 2013 2017
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 0.500 2 2009 2011
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 0.500 2 2012 2015
dbSNP: rs7804372
rs7804372
CAV1
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.020 0.500 2 2011 2013
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.100 0.556 18 1999 2017
dbSNP: rs1034866440
rs1034866440
AR
4 0.851 0.160 X 67643401 missense variant G/A snv 5.7E-06 0.050 0.600 5 2001 2011
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.050 0.600 5 2001 2011
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 0.600 5 2010 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.090 0.667 9 2005 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.060 0.667 6 2007 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 0.667 6 2007 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 0.667 6 2007 2016