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: rs1045411
rs1045411
HMGB1
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2015
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.030 0.667 3 2008 2014
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.020 0.500 2 2007 2015
dbSNP: rs10484399
rs10484399 		4 0.851 0.240 6 27566749 intergenic variant A/G snv 5.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs10487372
rs10487372
CFTR ; CFTR-AS1
3 0.882 0.080 7 117560845 intron variant C/T snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs104886026
rs104886026
EGFR
4 0.851 0.080 7 55200333 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.100 0.900 20 1998 2017
dbSNP: rs1049337
rs1049337
CAV1
3 0.882 0.080 7 116560533 3 prime UTR variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.030 1.000 3 2007 2008
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs10508266
rs10508266 		3 0.882 0.080 10 3797822 intergenic variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs10512948
rs10512948 		3 0.882 0.080 5 8233238 intron variant T/C snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs10514231
rs10514231
ATG10
6 0.807 0.160 5 82011593 intron variant C/T snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.800 0.960 25 2008 2018
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.080 1.000 8 2006 2015
dbSNP: rs1051753269
rs1051753269
EGFR
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10519203
rs10519203
HYKK
8 0.851 0.080 15 78521704 intron variant G/A snv 0.67 0.010 1.000 1 2010 2010