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: rs3729740
rs3729740
LIFR
3 0.882 0.080 5 38496535 splice acceptor variant C/T snv 2.2E-02 8.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs762936223
rs762936223
APC
1 1.000 0.080 5 112819342 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs769056296
rs769056296
APC
1 1.000 0.080 5 112819039 missense variant C/G snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9285673
rs9285673 		1 1.000 0.080 5 148793365 regulatory region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1145724
rs1145724 		1 1.000 0.080 6 90477791 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs144460286
rs144460286
EGFR
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 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 2010 2010
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2016 2016
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 2014 2014
dbSNP: rs3757441
rs3757441
EZH2
12 0.752 0.200 7 148827660 intron variant C/T snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs3815652
rs3815652
BBS9
3 0.925 0.160 7 33873792 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
21 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs849142
rs849142
JAZF1
6 0.807 0.240 7 28146272 intron variant T/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs2936519
rs2936519 		1 1.000 0.080 8 6781719 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs1372330
rs1372330
ASTN2
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1023741
rs1023741
PIK3AP1
1 1.000 0.080 10 96663139 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1049550
rs1049550
ANXA11
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs4754687
rs4754687 		1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.090 0.889 9 2010 2017
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.030 1.000 3 2013 2017