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: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2018 2019
dbSNP: rs2664581
rs2664581
PI3
3 0.882 0.120 20 45175881 missense variant A/C snv 0.16 0.16 0.020 1.000 2 2009 2014
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: rs1042689672
rs1042689672
SFTPA2
2 0.925 0.080 10 79557504 missense variant A/G snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1051931
rs1051931
PLA2G7
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 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: rs10905928
rs10905928
CELF2
1 1.000 0.040 10 11300924 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
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: 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: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2019 2019
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 2016 2016
dbSNP: rs1190286
rs1190286
POPDC3 ; BVES-AS1
1 1.000 0.040 6 105163071 intron variant C/T snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs121434431
rs121434431
TLR3
4 0.851 0.080 4 186083346 missense variant C/T snv 4.1E-04 5.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1320896171
rs1320896171
PAFAH1B1
3 0.882 0.120 17 2680294 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
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: rs13402990
rs13402990
TIA1 ; C2orf42
1 1.000 0.040 2 70231632 intron variant A/T snv 9.7E-03 0.010 1.000 1 2016 2016
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: 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: rs151139112
rs151139112
PLA2G1B
1 1.000 0.040 12 120322275 missense variant C/T snv 8.9E-04 3.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs1799946
rs1799946
DEFB1
13 0.732 0.360 8 6877909 5 prime UTR variant C/T snv 0.36 0.41 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: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2007 2007
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: 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