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: rs121913316
rs121913316
STK11
2 1.000 0.080 19 1220489 missense variant A/T snv 0.700 0
dbSNP: rs142771326
rs142771326
PPP2R1B
1 1.000 0.080 11 111766340 missense variant C/G;T snv 2.0E-04 5.2E-04 0.700 0
dbSNP: rs1446876735
rs1446876735
VHL
1 1.000 0.080 3 10142164 missense variant G/A snv 0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
7 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs973682124
rs973682124
PPP2R1B
1 1.000 0.080 11 111743419 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs10750417
rs10750417
LINC01395
3 0.882 0.080 11 129612280 non coding transcript exon variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs11543848
rs11543848
EGFR
7 0.790 0.240 7 55161562 missense variant G/A;C;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1171287261
rs1171287261
EGFR
4 0.851 0.080 7 55191839 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs12268840
rs12268840
MGMT
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 < 0.001 1 2008 2008
dbSNP: rs12828
rs12828
MAF ; WWOX
3 0.882 0.080 16 79212426 3 prime UTR variant G/A;C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs12918952
rs12918952
WWOX
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs12934922
rs12934922
BCO1
4 0.851 0.120 16 81268089 missense variant A/G;T snv 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs139600787
rs139600787
PRKN
3 0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs145067819
rs145067819
PSMB9
3 0.882 0.080 6 32857312 missense variant C/T snv 4.1E-06; 4.1E-04 4.4E-04 0.010 < 0.001 1 2012 2012
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2005 2005
dbSNP: rs1805388
rs1805388
LIG4
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.010 < 0.001 1 2015 2015
dbSNP: rs1814343
rs1814343 		3 0.882 0.080 11 129695357 regulatory region variant C/T snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2075686
rs2075686
XRCC4 ; TMEM167A
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 < 0.001 1 2009 2009