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: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.750 1.000 6 2014 2020
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: rs11264799
rs11264799
FCRL3
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020
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: rs9275596
rs9275596 		7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.720 1.000 3 2014 2017
dbSNP: rs10488764
rs10488764
FDX1
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs11264794
rs11264794
FCRL3
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
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: rs12716641
rs12716641 		1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs17019602
rs17019602
VAV3
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
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: 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: rs2412971
rs2412971
HORMAD2
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.710 1.000 2 2014 2017
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: rs2738058
rs2738058 		2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.710 1.000 2 2014 2015
dbSNP: rs2856717
rs2856717 		2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2015
dbSNP: rs4077515
rs4077515
CARD9
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
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: rs7190997
rs7190997
ITGAX
2 1.000 0.120 16 31356857 intron variant T/C snv 0.52 0.710 1.000 2 2015 2019