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: rs11944405
rs11944405
LAMTOR3
2 0.925 0.080 4 99878804 3 prime UTR variant T/C snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs283411
rs283411
ADH1B ; ADH1C
2 0.925 0.080 4 99344800 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 0.500 2 2012 2016
dbSNP: rs17033
rs17033
ADH1B
3 0.925 0.080 4 99307788 3 prime UTR variant T/C snv 9.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1230025
rs1230025
LOC100507053
2 0.925 0.080 4 99265219 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10512263
rs10512263
TGFBR1
4 0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02 0.020 1.000 2 2014 2018
dbSNP: rs6478974
rs6478974
TGFBR1
4 0.851 0.120 9 99112121 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs2808668
rs2808668
XPA
7 0.851 0.120 9 97690153 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs376040996
rs376040996
XPA
7 0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.800 15 2001 2017
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.020 1.000 2 2009 2010
dbSNP: rs1801159
rs1801159
DPYD
2 0.925 0.080 1 97515839 missense variant T/C snv 0.20 0.18 0.010 1.000 1 2012 2012
dbSNP: rs125701
rs125701
OGG1
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2019 2019
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs17109928
rs17109928
NOC3L
3 0.882 0.080 10 94338336 intron variant T/C;G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs3781264
rs3781264
PLCE1
5 0.851 0.120 10 94310618 intron variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.100 1.000 17 2010 2019
dbSNP: rs3765524
rs3765524
PLCE1
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.020 1.000 2 2012 2019
dbSNP: rs11187842
rs11187842
PLCE1
5 0.925 0.080 10 94292754 intron variant C/T snv 7.8E-02 0.020 1.000 2 2012 2014
dbSNP: rs753724
rs753724
PLCE1
4 0.882 0.080 10 94291660 intron variant G/A;C;T snv 0.020 1.000 2 2012 2014