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: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs12203582
rs12203582
IL17F
7 0.827 0.120 6 52240759 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1227480017
rs1227480017
RRM2
1 2 10122697 synonymous variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.010 1.000 1 2005 2005
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1397529
rs1397529
GAB1
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139852726
rs139852726
LPCAT1
4 0.882 0.080 5 1462734 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs199647144
rs199647144
INSRR ; NTRK1
1 1 156842109 missense variant T/C;G snv 8.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs199769221
rs199769221
PRSS1
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 < 0.001 1 2000 2000
dbSNP: rs199905033
rs199905033
IL6ST
4 0.882 0.080 5 55964205 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs2279574
rs2279574
DUSP6
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs28929495
rs28929495
EGFR
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016