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: rs2257167
rs2257167
IFNAR1
7 0.807 0.200 21 33343393 missense variant G/C snv 0.18 0.16 0.010 1.000 1 2003 2003
dbSNP: rs41297577
rs41297577
HAVCR1
1 1.000 0.080 5 157059492 upstream gene variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs41297579
rs41297579
HAVCR1
6 0.807 0.280 5 157059397 upstream gene variant C/T snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs7702919
rs7702919
HAVCR1
1 1.000 0.080 5 157059580 upstream gene variant T/C snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs9429942
rs9429942
CR1
2 0.925 0.080 1 207495285 upstream gene variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs17860508
rs17860508
LOC285626
11 0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs76980269
rs76980269
NOS1
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs2233860
rs2233860
RNASE3 ; LOC100507513
3 0.882 0.160 14 20892185 3 prime UTR variant G/C snv 0.18 0.19 0.010 1.000 1 2011 2011
dbSNP: rs4962153
rs4962153
ADAMTS13 ; CACFD1
9 0.925 0.120 9 133458632 intron variant A/G snv 0.79 0.010 1.000 1 2011 2011
dbSNP: rs8019343
rs8019343
RNASE3 ; LOC100507513
2 0.925 0.080 14 20892263 3 prime UTR variant A/T snv 4.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs139262191
rs139262191
IFNB1
1 1.000 0.080 9 21077768 missense variant G/C;T snv 7.0E-04; 4.2E-04; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1418646618
rs1418646618
TNF
1 1.000 0.080 6 31575843 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4508917
rs4508917
ART3 ; CXCL10
3 0.882 0.160 4 76024944 intron variant A/G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs56061981
rs56061981
ART3 ; CXCL10
5 0.851 0.120 4 76023632 intron variant C/T snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs6505469
rs6505469
NOS2
1 1.000 0.080 17 27784860 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs12912082
rs12912082
THBS1 ; FSIP1
1 1.000 0.080 15 39590289 intron variant C/T snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs1478604
rs1478604
THBS1
9 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs2664141
rs2664141
THBS1
1 1.000 0.080 15 39587316 intron variant C/A;G;T snv 4.2E-06; 0.29 0.010 1.000 1 2015 2015
dbSNP: rs3743125
rs3743125
THBS1 ; FSIP1
1 1.000 0.080 15 39595647 3 prime UTR variant G/A snv 0.14 0.12 0.010 1.000 1 2015 2015
dbSNP: rs5368
rs5368
SELE ; C1orf112
4 0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11 0.010 1.000 1 2015 2015
dbSNP: rs12159217
rs12159217
IL17RA
1 1.000 0.080 22 17093025 intron variant G/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs41396547
rs41396547
IL17RA
1 1.000 0.080 22 17098164 intron variant T/C snv 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs41433045
rs41433045
IL17RA
1 1.000 0.080 22 17083588 upstream gene variant T/C snv 9.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs4715291
rs4715291 		1 1.000 0.080 6 52248562 upstream gene variant C/A;T snv 0.010 1.000 1 2016 2016