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: rs1025423410
rs1025423410
TLR1
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs10521145
rs10521145
SGF29
1 16 28585563 intron variant G/A snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs1106766
rs1106766
R3HDM2
7 0.882 0.120 12 57415673 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.080 1 230710933 intron variant T/C snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
ITGAM
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2010 2010
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snv 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs11739136
rs11739136
KCNMB1 ; KCNIP1
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs1191455921
rs1191455921
LMX1B
3 0.925 0.240 9 126693319 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121912863
rs121912863
COL4A4
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2016 2016
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918673
rs121918673
HNF1B
3 0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs12449782
rs12449782 		3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1317776692
rs1317776692
INF2
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015