Source: BEFREE ×
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: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2004 2007
dbSNP: rs584367
rs584367
PLA2G2D
1 1.000 0.040 1 20115561 missense variant T/C snv 0.66 0.70 0.020 1.000 2 2005 2009
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1205
rs1205
CRP
45 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs12068264
rs12068264
CTSS
1 1.000 0.040 1 150754853 intron variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs198388
rs198388
NPPB
4 0.851 0.160 1 11857283 downstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
IL6R
48 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 1.000 1 2012 2012
dbSNP: rs310216
rs310216
JAK1
1 1.000 0.040 1 64850992 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2002 2002
dbSNP: rs3831317
rs3831317
CHIT1
2 0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 0.010 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928
CHI3L1
32 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs748500299
rs748500299
PTGS2
8 0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs758244932
rs758244932
EPHX1
5 0.827 0.120 1 225828842 missense variant C/T snv 1.3E-04 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs1130866
rs1130866
SFTPB
8 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 0.667 3 2005 2014
dbSNP: rs16865421
rs16865421
SERPINE2
1 1.000 0.040 2 223993376 intron variant A/G snv 0.10 0.020 1.000 2 2009 2019
dbSNP: rs3024791
rs3024791
SFTPB
1 1.000 0.040 2 85668581 intron variant C/T snv 0.17 0.020 0.500 2 2008 2011
dbSNP: rs729631
rs729631
SERPINE2
3 0.882 0.040 2 223980202 non coding transcript exon variant C/A;G snv 0.020 1.000 2 2009 2012
dbSNP: rs1048829
rs1048829
BMPR2
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1059823
rs1059823
SLC11A1
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs1290569539
rs1290569539
FEV
1 1.000 0.040 2 218981998 missense variant T/C snv 8.1E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs13010343
rs13010343
STAT1
1 1.000 0.040 2 190978719 non coding transcript exon variant G/A snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs16944
rs16944
IL1B
91 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1806649
rs1806649
NFE2L2
1 1.000 0.040 2 177253424 intron variant C/T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs2077079
rs2077079
SFTPB
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 < 0.001 1 2011 2011