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: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.020 1.000 2 2012 2018
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.020 1.000 2 2008 2017
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2014 2014
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs9261290
rs9261290
RNF39
10 0.807 0.280 6 30070870 3 prime UTR variant T/C;G snv 5.2E-02; 7.2E-06 0.700 1.000 2 2009 2012
dbSNP: rs9262143
rs9262143
PPP1R18
4 0.851 0.240 6 30685004 missense variant C/G;T snv 4.1E-06; 6.1E-02 0.700 1.000 2 2009 2012
dbSNP: rs9387478
rs9387478
DCBLD1
4 0.851 0.080 6 117465017 intron variant C/A;T snv 0.710 1.000 2 2012 2016
dbSNP: rs1002481
rs1002481
REV3L ; MFSD4B
3 0.882 0.080 6 111390819 intron variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10054203
rs10054203
TERT
3 0.882 0.080 5 1279849 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10187911
rs10187911
NRXN1
3 0.882 0.080 2 50420809 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs10213865
rs10213865
IL7R ; LOC105374724
5 0.827 0.120 5 35857748 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10254120
rs10254120
PMS2
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1035938
rs1035938
BICRA
8 0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs1042711
rs1042711
ADRB2
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1043973338
rs1043973338
IL1B
3 0.882 0.080 2 112830483 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1044396
rs1044396
CHRNA4
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs104886026
rs104886026
EGFR
4 0.851 0.080 7 55200333 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs10508266
rs10508266 		3 0.882 0.080 10 3797822 intergenic variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1053566
rs1053566
MAP2K7
3 0.882 0.080 19 7911079 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2016 2016