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: rs12948385
rs12948385
SERPINF1
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs1136287
rs1136287
SERPINF1
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.010 1.000 1 2007 2007
dbSNP: rs9913583
rs9913583
SERPINF1
2 0.925 0.120 17 1762036 5 prime UTR variant C/A snv 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs1372503923
rs1372503923
ITGA2
3 0.925 0.160 5 53048731 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs17366743
rs17366743
ADIPOQ ; ADIPOQ-AS1
7 0.807 0.280 3 186854300 missense variant T/C snv 2.2E-02 2.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2008 2008
dbSNP: rs759853
rs759853
AKR1B1
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.040 1.000 4 2009 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs140421861
rs140421861
ALB
1 1.000 0.120 4 73413512 synonymous variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs3025021
rs3025021
VEGFA
4 0.882 0.160 6 43781426 non coding transcript exon variant T/C snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.060 0.833 6 2010 2017
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.040 0.750 4 2010 2017
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.020 1.000 2 2010 2015
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2010 2010
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs765545512
rs765545512
HFE
6 0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs9640883
rs9640883
LOC105375519
4 0.882 0.120 7 134431881 intron variant G/A snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.040 1.000 4 2011 2018
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2011 2017
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2015
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015