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: rs10808739
rs10808739
CYP7B1
6 0.882 8 64727703 intron variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs6996198
rs6996198 		1 1.000 8 64550885 downstream gene variant C/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs17151904
rs17151904 		5 0.925 7 25568789 TF binding site variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs17691394
rs17691394
GRM8
5 0.925 7 126684537 intron variant A/G snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs6850
rs6850
PPIA ; LOC105375259
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7458938
rs7458938 		5 0.925 7 125820594 intergenic variant G/A snv 0.72 0.700 1.000 1 2015 2015
dbSNP: rs10484554
rs10484554
HLA-B ; LOC112267902
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1063320
rs1063320
HLA-G
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs143633948
rs143633948
ARG1
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
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: 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: rs3869068
rs3869068
ZNRD1ASP
5 0.925 6 30036275 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs59440261
rs59440261
MICA
5 0.925 6 31403294 intron variant C/A snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs608114
rs608114
LOC107986626
5 0.925 6 95928822 intron variant A/T snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs749701046
rs749701046
DNAH8
1 1.000 6 38723032 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.010 1.000 1 2017 2017
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: 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: 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: rs6594357
rs6594357 		5 0.925 5 109205522 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.070 0.857 7 2002 2015
dbSNP: rs1015164
rs1015164
CCRL2
8 0.925 3 46410189 intron variant A/C;G;T snv 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: 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