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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2014
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
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 2008 2008
dbSNP: rs3754689
rs3754689
LCT
2 0.925 0.080 2 135833176 missense variant C/A;G;T snv 4.8E-05; 0.24 0.010 1.000 1 2020 2020
dbSNP: rs748641905
rs748641905
MCFD2
3 0.882 0.080 2 46905501 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs10516487
rs10516487
BANK1
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 < 0.001 1 2018 2018
dbSNP: rs4833248
rs4833248 		1 1.000 0.080 4 122459250 upstream gene variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs17725712
rs17725712
CSF1R
1 1.000 0.080 5 150111245 intron variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs4147385
rs4147385
MAPK9
1 1.000 0.080 5 180250517 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs281860554
rs281860554
HLA-B ; HLA-C
1 1.000 0.080 6 31270435 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs766182641
rs766182641
AK3
3 0.882 0.080 9 4719292 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1800386
rs1800386
VWF
5 0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs1982037
rs1982037 		1 1.000 0.080 18 40854820 intergenic variant C/T snv 0.11 0.010 < 0.001 1 2018 2018
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs111033615
rs111033615
F8
1 1.000 0.080 X 154904004 missense variant C/T snv 0.810 1.000 23 1989 2013
dbSNP: rs137852403
rs137852403
F8
2 0.925 0.080 X 154969438 missense variant C/A;T snv 0.810 1.000 23 1989 2013
dbSNP: rs137852406
rs137852406
F8
2 0.925 0.080 X 154969400 missense variant T/C snv 5.5E-06 0.810 1.000 23 1989 2014
dbSNP: rs137852410
rs137852410
F8
1 1.000 0.080 X 154966654 missense variant C/G snv 0.810 1.000 23 1989 2013
dbSNP: rs137852428
rs137852428
F8
2 0.925 0.080 X 154953961 missense variant G/A snv 2.2E-05 9.5E-06 0.810 1.000 23 1989 2013
dbSNP: rs137852431
rs137852431
F8
1 1.000 0.080 X 154947854 missense variant C/T snv 0.810 1.000 23 1989 2013