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: rs1059057
rs1059057
SFTPA1
1 1.000 0.120 10 79613765 synonymous variant A/G snv 9.9E-02 6.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1078761
rs1078761
BPIFB1
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1124
rs1124
BMP1 ; SFTPC
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1136451
rs1136451
SFTPA1
1 1.000 0.120 10 79612325 synonymous variant A/G snv 0.21 0.17 0.010 1.000 1 2018 2018
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: rs1396707015
rs1396707015
CFTR
1 1.000 0.120 7 117535273 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs144745159
rs144745159
CFTR
1 1.000 0.120 7 117587770 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1626154
rs1626154
P2RY2
1 1.000 0.120 11 73235159 missense variant C/A;G;T snv 4.1E-06; 1.0E-04; 0.15 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs17140229
rs17140229
CFTR
1 1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800080
rs1800080
CFTR
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1800100
rs1800100
CFTR
2 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs186089140
rs186089140
CFTR
2 0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs191456345
rs191456345
CFTR
3 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs200901072
rs200901072
CFTR
1 1.000 0.120 7 117603610 synonymous variant G/A;C;T snv 4.8E-05; 8.0E-06; 4.0E-06 0.010 < 0.001 1 1995 1995
dbSNP: rs2077079
rs2077079
SFTPB
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2228607
rs2228607
STX1A
2 0.925 0.160 7 73708593 synonymous variant A/G snv 0.51 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2013 2013