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: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs765502022
rs765502022
UGT2B7
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.020 1.000 2 2005 2008
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.020 1.000 2 2001 2013
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.800 1.000 2 1999 2001
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2004 2014
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.020 1.000 2 2013 2014
dbSNP: rs10234749
rs10234749 		3 0.882 0.120 7 152690784 regulatory region variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1046428
rs1046428
GSTZ1
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs1057519958
rs1057519958
RXRA
4 0.851 0.200 9 134436505 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10743980
rs10743980
LRP6
4 0.882 0.120 12 12259861 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10759
rs10759
RGS4
4 0.851 0.160 1 163076561 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11191438
rs11191438
AS3MT ; BORCS7-ASMT
3 0.882 0.120 10 102878107 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1135612
rs1135612
POR
3 0.882 0.120 7 75980359 synonymous variant A/G;T snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs11466445
rs11466445
TGFBR1
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
dbSNP: rs11543198
rs11543198
CLK3
3 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1203030830
rs1203030830
EGFR
3 0.882 0.120 7 55155873 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2004 2004