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: rs5010528
rs5010528
HLA-B ; HLA-C
9 0.827 0.240 6 31273255 intron variant A/G snv 0.15 0.720 1.000 2 2017 2018
dbSNP: rs6500265
rs6500265 		3 0.882 0.240 16 49912759 intergenic variant C/G;T snv 0.27 0.710 1.000 2 2017 2018
dbSNP: rs16957893
rs16957893
LOC107984728
2 0.925 0.160 15 73437142 intergenic variant G/C snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs17137412
rs17137412
UMAD1
2 0.925 0.160 7 7761056 intron variant T/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2734583
rs2734583
DDX39B ; SNORD117 ; ATP6V1G2-DDX39B
3 0.882 0.240 6 31537703 intron variant A/G snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs2844665
rs2844665 		3 0.882 0.200 6 31039078 downstream gene variant T/C snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs3094188
rs3094188
POU5F1 ; PSORS1C3
3 0.882 0.200 6 31174468 intron variant C/A;T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs3130501
rs3130501
POU5F1
4 0.851 0.280 6 31168676 intron variant A/G snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs3130931
rs3130931
POU5F1 ; TCF19
2 0.925 0.160 6 31167111 5 prime UTR variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs3815087
rs3815087
PSORS1C1
8 0.851 0.200 6 31125810 5 prime UTR variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs4917014
rs4917014 		8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs6016348
rs6016348 		2 0.925 0.160 20 40410188 regulatory region variant C/T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs9469003
rs9469003
LINC01149
6 0.882 0.160 6 31440051 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs9888871
rs9888871 		2 0.925 0.160 16 49916730 downstream gene variant G/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2012 2017
dbSNP: rs28399499
rs28399499
CYP2B6
6 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 0.020 1.000 2 2013 2014
dbSNP: rs10181739
rs10181739
GNLY
1 1.000 0.160 2 85694429 stop gained G/A;T snv 6.4E-03 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2008 2008
dbSNP: rs2779249
rs2779249
NOS2
7 0.851 0.200 17 27801555 intron variant C/A snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2017 2017
dbSNP: rs384129
rs384129
GAS2
2 0.925 0.160 11 22670928 intron variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs41544623
rs41544623
MICA
3 0.882 0.280 6 31411083 missense variant C/T snv 0.010 1.000 1 2014 2014