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: rs28931570
rs28931570
SERPINA1
3 0.882 0.160 14 94383051 missense variant G/A snv 1.1E-03 1.5E-03 0.700 1.000 1 1989 1989
dbSNP: rs775982338
rs775982338
SERPINA1
3 0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04 0.700 1.000 1 1989 1989
dbSNP: rs11558261
rs11558261
SERPINA1
3 0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05 0.700 1.000 1 1990 1990
dbSNP: rs28931568
rs28931568
SERPINA1
3 0.882 0.160 14 94382966 missense variant C/T snv 0.700 1.000 1 1990 1990
dbSNP: rs28931572
rs28931572
SERPINA1
3 0.882 0.160 14 94382891 missense variant A/T snv 0.700 1.000 1 1990 1990
dbSNP: rs1800463
rs1800463
SERPINA3
2 1.000 0.040 14 94614674 missense variant T/A;C snv 0.030 1.000 3 1993 2000
dbSNP: rs55819880
rs55819880
SERPINA1
3 0.882 0.160 14 94383008 missense variant G/A snv 1.4E-04 0.700 1.000 1 1993 1993
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2002 2002
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.050 1.000 5 2004 2013
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.040 1.000 4 2004 2017
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: rs2241712
rs2241712
B9D2 ; TMEM91
3 0.882 0.120 19 41363851 intron variant C/T snv 0.71 0.030 1.000 3 2004 2017
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 2004 2008
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2004 2007
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: rs584367
rs584367
PLA2G2D
1 1.000 0.040 1 20115561 missense variant T/C snv 0.66 0.70 0.020 1.000 2 2005 2009
dbSNP: rs41511151
rs41511151
ELN
1 1.000 0.040 7 74068657 missense variant G/A snv 3.0E-03 3.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2005 2005
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2006 2015
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 1.000 2 2006 2019
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.030 1.000 3 2008 2016
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.030 1.000 3 2008 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: rs1059823
rs1059823
SLC11A1
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008