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: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2018 2018
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: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs11692021
rs11692021
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
3 1.000 0.080 2 233682559 missense variant T/C snv 0.35 0.34 0.010 1.000 1 2014 2014
dbSNP: rs111861762
rs111861762
UGT1A10 ; UGT1A8 ; UGT1A9
1 1.000 0.080 2 233672556 missense variant C/T snv 1.0E-04 3.8E-04 0.010 1.000 1 2014 2014
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: rs10920654
rs10920654
BRINP3
1 1.000 0.080 1 190162620 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7582977
rs7582977 		1 1.000 0.080 2 174340785 upstream gene variant T/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs5749032
rs5749032 		1 1.000 0.080 22 17313079 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs2327990
rs2327990 		1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019
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: rs368295543
rs368295543
CD38
1 1.000 0.080 4 15778625 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs17053011
rs17053011
SGCD
1 1.000 0.080 5 155934106 intron variant G/T snv 0.13 0.700 1.000 1 2019 2019