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: rs11567847
rs11567847
TEAD1
3 0.925 0.120 11 12937202 missense variant T/C snv 0.810 1.000 1 2019 2019
dbSNP: rs11073001
rs11073001
IL16
1 1.000 0.080 15 81300461 synonymous variant A/G snv 0.20 0.27 0.010 1.000 1 2014 2014
dbSNP: rs12942547
rs12942547
STAT3
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17875491
rs17875491
IL16
1 1.000 0.080 15 81294587 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2020 2020
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1801708
rs1801708
EDNRA
4 0.925 0.160 4 147481217 5 prime UTR variant G/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1856746
rs1856746
FCAMR
1 1.000 0.080 1 206970077 intron variant A/G snv 0.47 0.58 0.010 1.000 1 2015 2015
dbSNP: rs2069429
rs2069429
CCNB1
3 0.882 0.160 5 69166926 upstream gene variant G/A snv 1.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs2069433
rs2069433
CCNB1
2 0.925 0.160 5 69171680 intron variant T/C snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2229446
rs2229446
VWF
1 1.000 0.080 12 5993906 missense variant C/T snv 1.6E-02 5.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2233406
rs2233406
NFKBIA
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
dbSNP: rs2763979
rs2763979
HSPA1B
5 0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs3138053
rs3138053
NFKBIA
10 0.790 0.280 14 35405648 upstream gene variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018
dbSNP: rs372351170
rs372351170
CYP3A4
1 1.000 0.080 7 99767248 synonymous variant T/C snv 1.8E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs378299
rs378299
ICOSLG
3 0.882 0.160 21 44241460 upstream gene variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs3862434
rs3862434
CRTC3
3 1.000 0.080 15 90537155 intron variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2014 2014