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: rs1243160
rs1243160
SERPINA1
1 1.000 0.040 14 94388540 intron variant G/A snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs145174011
rs145174011
HAL
1 1.000 0.040 12 95984922 intron variant T/A snv 4.9E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs16969858
rs16969858
IREB2
1 1.000 0.040 15 78446438 intron variant C/T snv 2.7E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs17634369
rs17634369 		1 1.000 0.040 7 50281878 intergenic variant G/A snv 0.49 0.010 < 0.001 1 2016 2016
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 < 0.001 1 2016 2016
dbSNP: rs2077079
rs2077079
SFTPB
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 < 0.001 1 2011 2011
dbSNP: rs2227744
rs2227744
F2R
1 1.000 0.040 5 76714524 intron variant G/A snv 0.38 0.010 < 0.001 1 2014 2014
dbSNP: rs2280091
rs2280091
ADAM33
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.010 < 0.001 1 2014 2014
dbSNP: rs2283628
rs2283628
PLAUR
1 1.000 0.040 19 43658909 intron variant T/C snv 0.24 0.010 < 0.001 1 2009 2009
dbSNP: rs2302524
rs2302524
PLAUR
2 1.000 0.040 19 43652320 missense variant T/C snv 0.16 0.17 0.010 < 0.001 1 2009 2009
dbSNP: rs2854254
rs2854254
SERPINA1
1 1.000 0.040 14 94388536 intron variant T/C snv 0.64 0.010 < 0.001 1 2017 2017
dbSNP: rs344779
rs344779 		1 1.000 0.040 19 43673836 upstream gene variant T/G snv 0.58 0.010 < 0.001 1 2009 2009
dbSNP: rs3821104
rs3821104
XRCC5
1 1.000 0.040 2 216193123 intron variant G/A snv 0.72 0.010 < 0.001 1 2011 2011
dbSNP: rs528557
rs528557
ADAM33
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.010 < 0.001 1 2014 2014
dbSNP: rs664393
rs664393
FLT1
4 0.851 0.080 13 28496864 non coding transcript exon variant T/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs740587
rs740587
LOC105372412
1 1.000 0.040 19 43692516 intron variant T/C snv 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs9554314
rs9554314
FLT1
4 0.851 0.080 13 28301652 3 prime UTR variant A/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.030 0.333 3 2004 2017
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.020 0.500 2 2017 2019
dbSNP: rs2568494
rs2568494
IREB2
7 0.851 0.080 15 78448622 intron variant G/A snv 0.36 0.020 0.500 2 2011 2016
dbSNP: rs3024791
rs3024791
SFTPB
1 1.000 0.040 2 85668581 intron variant C/T snv 0.17 0.020 0.500 2 2008 2011
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 0.500 2 2014 2016
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2009 2015
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 0.667 3 2005 2014
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.030 0.667 3 2010 2017