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: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.050 1.000 5 2013 2019
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.040 1.000 4 2004 2019
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.020 1.000 2 2012 2018
dbSNP: rs7934606
rs7934606
MUC2
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.810 1.000 2 2013 2016
dbSNP: rs1007177
rs1007177
DISP2
1 15 40359637 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1033198
rs1033198 		1 11 1325572 intergenic variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs121917836
rs121917836
SFTPC
4 0.882 0.040 8 22162727 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs12610495
rs12610495
DPP9
1 19 4717660 missense variant A/G;T snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1379326
rs1379326
CSMD1
1 8 4760288 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1920120
rs1920120
MYNN
1 3 169784392 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2075859
rs2075859
MUC5B
1 11 1229258 missense variant C/G;T snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2668692
rs2668692
KANSL1
3 1.000 0.040 17 46215654 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2735727
rs2735727
MUC5B
1 11 1236229 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2853672
rs2853672
TERT
4 0.882 0.080 5 1292868 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs2904259
rs2904259
FAM13A
5 4 88964563 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs373129709
rs373129709
EGFR ; LOC105375284
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs3821383
rs3821383
MYNN
2 1.000 0.160 3 169772158 upstream gene variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs4727443
rs4727443
LOC105375423
1 7 99995723 upstream gene variant C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs546433642
rs546433642
KANSL1
4 0.925 0.120 17 46172742 intron variant T/C;G snv 0.700 1.000 1 2013 2013