Source: BEFREE ×
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: rs112445441
rs112445441
KRAS
24 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
12 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 1 2009 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs115169993
rs115169993
DDR2
1 1.000 0.040 1 162772032 missense variant G/A snv 7.8E-04 2.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2008 2008
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: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913273
rs121913273
PIK3CA
22 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: rs121913465
rs121913465
EGFR ; EGFR-AS1
9 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913530
rs121913530
KRAS
55 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121918502
rs121918502
FGFR2
7 0.790 0.160 10 121517351 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs12203592
rs12203592
IRF4
16 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 1 2011 2019
dbSNP: rs12210050
rs12210050
LOC105374875
4 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 		2 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs1229984
rs1229984
ADH1B
60 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
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: 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: 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: rs12934561
rs12934561
IL32
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2017 2017