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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs145733073
rs145733073
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs2035565
rs2035565
LINC01829
1 1.000 0.120 2 67392524 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs2229629
rs2229629
HK2
4 0.882 0.120 2 74889400 missense variant G/A snv 6.0E-02 0.18 0.010 1.000 1 2011 2011
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs587779067
rs587779067
MSH2
5 0.882 0.200 2 47416399 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs63751412
rs63751412
MSH2
4 0.882 0.200 2 47429869 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs767964519
rs767964519
NFE2L2
2 0.925 0.120 2 177231869 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs876661110
rs876661110
MSH6 ; FBXO11
2 0.925 0.120 2 47791093 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs980303898
rs980303898
GCG ; LOC101929532
4 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2009 2014
dbSNP: rs762581936
rs762581936
MUC4
5 0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 0.020 1.000 2 2012 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1235228469
rs1235228469
PIK3CB
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1276300653
rs1276300653
OGG1 ; CAMK1
2 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs138147246
rs138147246
OGG1
2 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs139632793
rs139632793
OGG1
2 0.925 0.120 3 9751114 missense variant G/C snv 5.2E-05 1.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs1447826
rs1447826 		1 1.000 0.120 3 74669607 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011