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: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1800628
rs1800628 		6 0.827 0.080 6 31579073 downstream gene variant G/A snv 7.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs221236
rs221236 		2 1.000 0.120 7 157529938 downstream gene variant G/A snv 0.96 0.010 1.000 1 2014 2014
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 < 0.001 1 2015 2015
dbSNP: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs17071138
rs17071138
SERPINB5
2 1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800625
rs1800625
AGER ; PBX2
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs3754093
rs3754093
EXO1
11 0.776 0.240 1 241846814 upstream gene variant A/G snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs511044
rs511044
CASP5
3 0.925 0.120 11 105024783 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs6691378
rs6691378
CHI3L1
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2015 2015
dbSNP: rs708111
rs708111 		4 0.882 0.120 1 228003664 upstream gene variant G/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs7834169
rs7834169 		3 0.925 0.120 8 27052774 upstream gene variant C/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11685387
rs11685387
XRCC5
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs1533767
rs1533767
WNT11
5 0.851 0.120 11 76194756 splice region variant G/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015