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: rs608114
rs608114
LOC107986626
5 0.925 6 95928822 intron variant A/T snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs9576
rs9576
BST2
1 1.000 19 17403172 3 prime UTR variant T/G snv 0.92 0.010 1.000 1 2016 2016
dbSNP: rs4704846
rs4704846
HAVCR2
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs7458938
rs7458938 		5 0.925 7 125820594 intergenic variant G/A snv 0.72 0.700 1.000 1 2015 2015
dbSNP: rs6723162
rs6723162 		5 0.925 2 70875156 intergenic variant A/T snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs7117111
rs7117111
CUL5
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4835796
rs4835796
REEP2
5 0.925 5 138446426 3 prime UTR variant T/G snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2015 2015
dbSNP: rs2442719
rs2442719
HLA-B
6 0.882 0.120 6 31352761 intron variant C/T snv 0.53 0.700 1.000 1 2015 2015
dbSNP: rs6542826
rs6542826
RANBP2 ; SH3RF3
5 0.925 2 109433263 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2301254
rs2301254
WT1 ; WT1-AS
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs13064773
rs13064773 		5 0.925 3 158893105 intergenic variant G/A snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs9264942
rs9264942
HLA-B ; LOC112267902
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs11231017
rs11231017 		5 0.925 11 62293877 downstream gene variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs241447
rs241447
TAP2
11 0.827 0.280 6 32828974 missense variant T/C snv 0.31 0.26 0.010 1.000 1 2020 2020
dbSNP: rs10808739
rs10808739
CYP7B1
6 0.882 8 64727703 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs11649112
rs11649112
SHISA9 ; LOC107984137
5 0.925 16 13267554 intron variant G/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs2229116
rs2229116
RYR3
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.700 1.000 1 2010 2010
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs11157436
rs11157436
TRAV30
7 0.851 0.040 14 22168978 synonymous variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs10415893
rs10415893 		1 1.000 19 17401603 upstream gene variant G/A snv 0.18 0.010 1.000 1 2013 2013