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: rs2234678
rs2234678
IL1RN
2 0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21 0.010 < 0.001 1 2007 2007
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 < 0.001 1 2014 2014
dbSNP: rs3025020
rs3025020
VEGFA
3 0.882 0.240 6 43781373 non coding transcript exon variant C/T snv 0.24 0.010 < 0.001 1 2016 2016
dbSNP: rs369224010
rs369224010
NOS1
1 1.000 0.080 12 117330605 synonymous variant G/A;C snv 4.5E-05 9.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs3742030
rs3742030
TRPV4
4 0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs3798134
rs3798134
RAD50
1 1.000 0.080 5 132629487 intron variant G/A snv 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2019 2019
dbSNP: rs396991
rs396991
FCGR3A
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs5065
rs5065
CLCN6 ; NPPA ; NPPA-AS1
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 < 0.001 1 2008 2008
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 < 0.001 1 2011 2011
dbSNP: rs712484
rs712484 		3 0.882 0.160 14 48081576 intergenic variant C/A snv 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 < 0.001 1 2018 2018
dbSNP: rs762534
rs762534 		1 1.000 0.080 5 132669064 upstream gene variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs7936562
rs7936562 		4 0.882 0.160 11 76567214 intergenic variant T/C snv 0.59 0.010 < 0.001 1 2012 2012
dbSNP: rs8066582
rs8066582
PSMD3
2 0.925 0.080 17 39990676 intron variant T/C snv 0.56 0.010 < 0.001 1 2016 2016
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs926169
rs926169 		2 0.925 0.160 2 203858029 regulatory region variant G/A;C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs9313422
rs9313422
HAVCR1
4 0.851 0.160 5 157058359 5 prime UTR variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs9916279
rs9916279
PSMD3
2 0.925 0.080 17 39989901 synonymous variant T/C snv 0.14 0.21 0.010 < 0.001 1 2016 2016
dbSNP: rs9982010
rs9982010
BACH1 ; LINC00189
1 1.000 0.080 21 29195855 intron variant G/A snv 0.54 0.010 < 0.001 1 2009 2009
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.030 0.333 3 2005 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 0.500 2 2011 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 0.020 0.500 2 2004 2011
dbSNP: rs2806489
rs2806489
CYSLTR1
2 1.000 0.080 X 78327951 upstream gene variant C/T snv 0.020 0.500 2 2009 2017
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 0.500 2 2011 2017