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: rs10733710
rs10733710
TGFBR1
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs6478974
rs6478974
TGFBR1
4 0.851 0.120 9 99112121 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2018 2018
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs3768235
rs3768235
BCL10
2 0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs1694964
rs1694964
LINC02025
4 0.925 0.080 3 84885341 intron variant G/T snv 0.010 1.000 1 2010 2010
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 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.750 8 2005 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.080 0.750 8 2005 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.750 8 2005 2014
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587778720
rs587778720
TP53
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs3219175
rs3219175
RETN
10 0.807 0.240 19 7668969 upstream gene variant G/A snv 5.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs6259
rs6259
SHBG
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.020 1.000 2 2007 2008
dbSNP: rs758188449
rs758188449
SHBG
2 0.925 0.080 17 7632936 missense variant G/A;T snv 6.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs605965
rs605965 		2 0.925 0.080 6 75723198 downstream gene variant T/A snv 2.3E-02 0.010 1.000 1 2008 2008