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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.818 11 1997 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 1.000 7 1997 2010
dbSNP: rs887280103
rs887280103
ACE
1 1.000 0.120 17 63477294 missense variant C/G snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2003 2014
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2004 2004
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs373544789
rs373544789
FCAR
2 0.925 0.120 19 54889688 missense variant G/A;T snv 8.8E-05; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2007 2007
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2007 2007
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2017
dbSNP: rs11084377
rs11084377
FCAR
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs13124532
rs13124532
PDE5A ; LOC645513
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs4984
rs4984
ADD2 ; LOC105374794
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2010 2010
dbSNP: rs2738048
rs2738048 		1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs3803800
rs3803800
TNFSF13 ; TNFSF12-TNFSF13
7 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.830 1.000 4 2011 2017
dbSNP: rs12537
rs12537
MTMR3 ; HORMAD2-AS1
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.020 1.000 2 2011 2011
dbSNP: rs2523946
rs2523946
HLA-A ; HCG9
2 0.925 0.200 6 29974166 upstream gene variant C/A;G;T snv 0.800 1.000 2 2011 2015
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.020 1.000 2 2011 2016
dbSNP: rs5743557
rs5743557
TLR1
4 0.882 0.160 4 38805206 5 prime UTR variant G/A snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs660895
rs660895
HLA-DRB1
10 0.752 0.360 6 32609603 intergenic variant A/G snv 0.19 0.810 1.000 2 2011 2015
dbSNP: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011