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: 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: rs11918092
rs11918092
EPHB1
2 0.925 0.120 3 134794514 intron variant C/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2019 2019
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: rs762513613
rs762513613
FCGR2C
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs2366964
rs2366964
FHIT
1 1.000 0.080 3 59944946 intron variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs17201864
rs17201864
HAPLN3
1 1.000 0.080 15 88877743 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
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: 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: rs1801123
rs1801123
IRS1
3 0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20 0.010 1.000 1 2017 2017
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: 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
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2016 2019
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2012 2012
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: rs6110524
rs6110524
MACROD2
1 1.000 0.080 20 15130492 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs885036
rs885036
MGAT4A
1 1.000 0.080 2 98688331 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs11692570
rs11692570
MIR7515HG
1 1.000 0.080 2 6637860 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs8602
rs8602
MKNK1 ; MKNK1-AS1
1 1.000 0.080 1 46557859 3 prime UTR variant C/A snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016