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: rs991316
rs991316
LOC102723576
3 0.925 0.160 4 99401288 intergenic variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs334348
rs334348
TGFBR1
5 0.851 0.160 9 99150189 3 prime UTR variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs16914640
rs16914640
CLEC2D
2 1.000 0.120 12 9669791 missense variant C/G;T snv 0.14; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2398180
rs2398180
NR2F2-AS1
6 0.827 0.080 15 96319940 intron variant C/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2013 2013
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: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2008 2008
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2008 2008
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2008 2008
dbSNP: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2014 2014
dbSNP: rs11545028
rs11545028
WWOX
3 1.000 0.080 16 78099774 5 prime UTR variant C/T snv 0.30 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 1.000 5 2003 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 1.000 5 2003 2015
dbSNP: rs587782705
rs587782705
TP53
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587778718
rs587778718
TP53
2 1.000 0.080 17 7674959 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
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: rs563691424
rs563691424
WNK1
2 1.000 0.080 12 753860 missense variant C/T snv 6.2E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs770140945
rs770140945
CYP1A1
4 0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014