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: rs1529672
rs1529672
RARB
6 1.000 0.040 3 25479091 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs16825267
rs16825267
LINC01807 ; LOC105373920
3 1.000 0.040 2 228705203 intron variant C/A;G snv 0.700 1.000 2 2017 2019
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: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2013 2017
dbSNP: rs2009746
rs2009746
IREB2
4 1.000 0.040 15 78461760 intron variant A/G snv 0.29 0.710 1.000 2 2015 2015
dbSNP: rs2047409
rs2047409
TET2 ; TET2-AS1
2 1.000 0.040 4 105215876 intron variant G/A snv 0.49 0.700 1.000 2 2017 2019
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.020 0.500 2 2017 2019
dbSNP: rs2568494
rs2568494
IREB2
7 0.851 0.080 15 78448622 intron variant G/A snv 0.36 0.020 0.500 2 2011 2016
dbSNP: rs2737190
rs2737190 		6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.020 1.000 2 2019 2019
dbSNP: rs2806356
rs2806356
ARMC2
1 1.000 0.040 6 108945052 intron variant T/C;G snv 0.700 1.000 2 2017 2019
dbSNP: rs2869966
rs2869966
FAM13A ; LOC105377327
9 1.000 0.040 4 88947927 intron variant C/T snv 0.47 0.700 1.000 2 2014 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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 0.500 2 2014 2016
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.020 1.000 2 2010 2015
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 1.000 2 2016 2016
dbSNP: rs4416442
rs4416442
FAM13A ; LOC105377327
4 0.925 0.080 4 88945562 intron variant T/C snv 0.45 0.700 1.000 2 2014 2014
dbSNP: rs55676755
rs55676755
CHRNA3
3 1.000 0.040 15 78606590 intron variant C/G snv 0.27 0.700 1.000 2 2015 2019
dbSNP: rs647097
rs647097
MTCL1
1 1.000 0.040 18 8808466 intron variant T/C snv 0.31 0.700 1.000 2 2017 2019
dbSNP: rs6957
rs6957
TGFB1 ; CCDC97
1 1.000 0.040 19 41324701 3 prime UTR variant T/C snv 0.21 0.020 1.000 2 2012 2017
dbSNP: rs7078012
rs7078012
SFTPD
2 1.000 0.040 10 79945677 intron variant C/T snv 0.20 0.710 1.000 2 2011 2012
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: rs8042238
rs8042238
IREB2
4 1.000 0.040 15 78481929 intron variant C/T snv 0.51 0.710 1.000 2 2014 2018
dbSNP: rs8192482
rs8192482
CHRNA3 ; CHRNA5
3 1.000 0.040 15 78593856 3 prime UTR variant C/T snv 0.24 0.700 1.000 2 2015 2019
dbSNP: rs9296092
rs9296092 		1 1.000 0.040 6 33510719 intergenic variant A/G snv 0.55 0.810 1.000 2 2011 2017
dbSNP: rs9788721
rs9788721
HYKK
6 1.000 0.040 15 78510527 intron variant C/T snv 0.65 0.700 1.000 2 2015 2018