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: rs7022797
rs7022797
S1PR3 ; C9orf47
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs7068124
rs7068124
CELF2
1 1.000 0.040 10 11023453 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs761495176
rs761495176
NR3C1
3 0.882 0.080 5 143400263 missense variant T/C snv 1.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs315952
rs315952
IL1RN
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.020 1.000 2 2013 2014
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs1965708
rs1965708
SFTPA2
6 0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 0.010 1.000 1 2014 2014
dbSNP: rs3814634
rs3814634
CELF2 ; CELF2-AS2
1 1.000 0.040 10 11099442 splice region variant G/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs782230926
rs782230926
HAP1
1 1.000 0.040 17 41734538 missense variant G/T snv 8.4E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1059046
rs1059046
SFTPA2
3 0.882 0.120 10 79559458 missense variant G/C;T snv 2.2E-05; 0.46 0.010 1.000 1 2014 2014
dbSNP: rs11137480
rs11137480
S1PR3 ; C9orf47
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs6533485
rs6533485
EGF
1 1.000 0.040 4 110006407 intron variant G/C snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2000 2000
dbSNP: rs146709251
rs146709251
ABCA3
3 0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2014 2014
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2592178
rs2592178
TIA1 ; C2orf42
1 1.000 0.040 2 70245350 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs3848719
rs3848719
ZNF335
1 1.000 0.040 20 45967906 synonymous variant G/A snv 0.33 0.32 0.010 1.000 1 2014 2014