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: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs1065827
rs1065827 		1 16 65949614 intergenic variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1182554992
rs1182554992
ESR1
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs528311784
rs528311784
COMT ; MIR4761
1 22 19962807 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6058017
rs6058017
AHCY ; ASIP
2 20 34269192 3 prime UTR variant A/G snv 0.15 0.29 0.010 1.000 1 2014 2014
dbSNP: rs749246793
rs749246793
COMT ; MIR4761
1 22 19964189 missense variant T/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs754866097
rs754866097
BMP8B ; PPIE
1 1 39760432 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs78220092
rs78220092 		1 1 241385280 intergenic variant C/A snv 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2007 2017
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2008 2016
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.700 1.000 1 2018 2018
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019