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: rs1060501199
rs1060501199
TP53
1 1.000 0.120 17 7673577 missense variant C/A;T snv 0.700 0
dbSNP: rs28897701
rs28897701
BRCA2
2 0.925 0.160 13 32319232 missense variant G/C snv 2.6E-04 3.1E-04 0.700 0
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.020 1.000 2 2015 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1049380
rs1049380
ITPR2
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2018 2018
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs1805010
rs1805010
IL4R
12 0.752 0.400 16 27344882 missense variant A/C;G;T snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs2228230
rs2228230
PDGFRA
5 0.882 0.120 4 54285873 synonymous variant C/A;T snv 4.0E-06; 0.18 0.010 1.000 1 2017 2017
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: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
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 2011 2011
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs7105934
rs7105934
LOC102724265
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
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: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007