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: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs148735424
rs148735424 		1 1.000 0.120 6 32697982 intergenic variant -/TTCGTC;TTCGTCAGAC delins 0.700 1.000 1 2007 2007
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.710 1.000 2 2011 2013
dbSNP: rs3135002
rs3135002 		2 1.000 0.120 6 32700662 TF binding site variant A/C snv 0.80 0.720 0.500 2 2018 2020
dbSNP: rs1058026
rs1058026
HLA-B
5 0.925 0.120 6 31353908 3 prime UTR variant A/C snv 0.21 0.700 1.000 1 2007 2007
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs1217385
rs1217385
AP4B1-AS1
1 1.000 0.120 1 113875583 intron variant A/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1265564
rs1265564
CUX2
4 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs1428168076
rs1428168076
CAT
1 1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1980495
rs1980495
TSBP1-AS1
2 0.925 0.160 6 32379017 intron variant A/C snv 0.24 0.700 1.000 1 2007 2007
dbSNP: rs209473
rs209473
HLA-DMA
1 1.000 0.120 6 32955131 intron variant A/C snv 0.56 0.700 1.000 1 2007 2007
dbSNP: rs2234694
rs2234694
SOD1
3 0.882 0.240 21 31666552 intron variant A/C snv 3.6E-02 3.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs2254193
rs2254193
BNC2
1 1.000 0.120 9 16801852 intron variant A/C snv 8.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs229533
rs229533
C1QTNF6
1 1.000 0.120 22 37191071 intron variant A/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs2523987
rs2523987
TRIM31 ; TRIM31-AS1
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2007 2007
dbSNP: rs2650000
rs2650000
HNF1A-AS1
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs3095340
rs3095340 		2 1.000 0.120 6 30759162 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs3129871
rs3129871
HLA-DRA
5 0.827 0.320 6 32438565 upstream gene variant A/C snv 0.59 0.700 1.000 1 2007 2007
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2010 2010
dbSNP: rs3763313
rs3763313
BTNL2
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2007 2007
dbSNP: rs439121
rs439121 		1 1.000 0.120 6 33225090 intergenic variant A/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs4948088
rs4948088 		2 0.925 0.160 7 50959497 intron variant A/C snv 0.96 0.800 1.000 1 2009 2009
dbSNP: rs780229030
rs780229030
RELB
4 0.851 0.280 19 45032710 missense variant A/C snv 0.010 1.000 1 2006 2006
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs917911
rs917911
CD69
1 1.000 0.120 12 9753255 3 prime UTR variant A/C snv 0.29 0.700 1.000 1 2015 2015