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: rs3804100
rs3804100
TLR2
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs764491141
rs764491141
TGFB1
1 19 41352886 synonymous variant G/A snv 0.010 < 0.001 1 2009 2009
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs17563161
rs17563161
SLC9A3
4 0.882 0.040 5 497509 intron variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs3788766
rs3788766
SLC6A14
2 1.000 0.040 X 116435671 upstream gene variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2010 2010
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2005 2009
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs1965708
rs1965708
SFTPA2
6 0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 0.010 1.000 1 2015 2015
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.020 1.000 2 2010 2018
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs761711628
rs761711628
SERPINA1
1 14 94379496 missense variant C/A;T snv 1.4E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2013 2013
dbSNP: rs35169799
rs35169799
PLCB3
5 0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs778055276
rs778055276
PARP9 ; LOC105374071
1 3 122555701 missense variant T/C snv 4.4E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1221395132
rs1221395132
IRF7 ; PHRF1
1 11 612721 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
IL1B
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs772717932
rs772717932
IL1B
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs11575934
rs11575934
IL12RB1
4 0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 0.010 1.000 1 2007 2007