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: 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: 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: 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: rs2298991
rs2298991
EGF
1 1.000 0.040 4 109970856 intron variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs2515475
rs2515475
ANGPT2 ; MCPH1
1 1.000 0.040 8 6530918 intron variant C/T snv 0.19 0.010 1.000 1 2009 2009
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: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs3774934
rs3774934
NFKB1
4 0.851 0.080 4 102506319 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
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: rs516651
rs516651
EGLN1
1 1.000 0.040 1 231406910 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
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: rs672961
rs672961
LRRC7
1 1.000 0.040 1 70101505 intron variant C/G snv 0.99 0.010 1.000 1 2015 2015
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: rs7692976
rs7692976
EGF
2 1.000 0.040 4 109990411 intron variant A/G;T snv 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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