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: rs10507391
rs10507391
ALOX5AP
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs10758593
rs10758593
GLIS3
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
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: rs117603931
rs117603931
ABCA3
4 0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121917836
rs121917836
SFTPC
4 0.882 0.040 8 22162727 missense variant G/A snv 0.010 1.000 1 2005 2005
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: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.010 1.000 1 2010 2010
dbSNP: rs200039720
rs200039720
SFTPC
3 0.925 0.080 8 22162688 missense variant G/A snv 1.5E-04 1.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs201933678
rs201933678
BMP1 ; SFTPC
1 8 22163196 stop gained C/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2010 2010
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: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs2894439
rs2894439
FOXP4-AS1 ; LINC01276
1 6 41512355 intron variant G/A snv 6.4E-02 0.010 1.000 1 2017 2017
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: 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: rs4728142
rs4728142 		18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs549977217
rs549977217
ABCA3
1 16 2284869 missense variant C/T snv 4.6E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7020673
rs7020673
GLIS3
4 0.882 0.200 9 4291747 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7117932
rs7117932
ETS1 ; LOC105369565
2 1.000 0.080 11 128567058 intron variant C/T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs749885909
rs749885909
RMDN2 ; RMDN2-AS1
1 2 38004143 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7572733
rs7572733
PLCL1
4 0.925 0.120 2 198065082 intron variant C/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs768483175
rs768483175
ABCA3
1 16 2319832 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7731626
rs7731626
ANKRD55
16 0.716 0.240 5 56148856 intron variant G/A snv 0.30 0.010 1.000 1 2017 2017