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: rs10818524
rs10818524
GSN
1 1.000 0.040 9 121267901 intron variant T/C snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs10971638
rs10971638
PTENP1
1 1.000 0.040 9 33674679 non coding transcript exon variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11707807
rs11707807
LPP
1 1.000 0.040 3 188370473 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs117984432
rs117984432
ANKRD11
1 1.000 0.040 16 89388583 intron variant T/C snv 2.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs12108497
rs12108497
CASP3 ; PRIMPOL
6 0.851 0.080 4 184650403 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913230
rs121913230
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181437 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs121913273
rs121913273
PIK3CA
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs121913431
rs121913431
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181438 missense variant G/A snv 0.700 1.000 1 2014 2014
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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121918502
rs121918502
FGFR2
9 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs12334811
rs12334811
PRKDC
4 0.851 0.080 8 47920417 intron variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1246946
rs1246946 		4 0.851 0.040 6 4979722 downstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1256046734
rs1256046734
LEPR
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs12587742
rs12587742
DCAF4
5 0.851 0.080 14 72926683 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs12934561
rs12934561
IL32
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2017 2017