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: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.900 1.000 15 2010 2018
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.880 1.000 10 2009 2018
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.780 0.889 9 2010 2018
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.760 1.000 8 2012 2019
dbSNP: rs12914385
rs12914385
CHRNA3
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.810 1.000 7 2011 2018
dbSNP: rs13180
rs13180
IREB2
7 0.851 0.160 15 78497146 synonymous variant C/T snv 0.54 0.51 0.850 1.000 7 2010 2018
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.060 0.833 6 2010 2018
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.740 1.000 6 2011 2019
dbSNP: rs7671167
rs7671167
FAM13A
7 0.925 0.040 4 88962828 intron variant C/T snv 0.53 0.840 1.000 6 2010 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.050 1.000 5 2004 2013
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 1.000 4 2012 2019
dbSNP: rs13118928
rs13118928 		7 0.925 0.040 4 144565237 intron variant A/G snv 0.33 0.830 1.000 4 2010 2017
dbSNP: rs13141641
rs13141641 		8 1.000 0.040 4 144585304 intron variant T/C snv 0.32 0.800 1.000 4 2012 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.040 1.000 4 2004 2017
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.040 1.000 4 2010 2019
dbSNP: rs1828591
rs1828591
LOC105377462
5 1.000 0.040 4 144559628 intron variant A/G snv 0.43 0.820 1.000 4 2009 2013
dbSNP: rs2869967
rs2869967
FAM13A ; LOC105377327
11 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.820 0.750 4 2010 2015
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.040 1.000 4 2010 2019
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.040 1.000 4 2010 2018
dbSNP: rs754388
rs754388
RIN3
7 0.882 0.120 14 92649065 intron variant G/C;T snv 0.700 1.000 4 2014 2019
dbSNP: rs7937
rs7937
RAB4B ; MIA-RAB4B ; RAB4B-EGLN2
6 0.851 0.080 19 40796801 3 prime UTR variant C/A;T snv 0.49 0.830 1.000 4 2012 2018
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.030 1.000 3 2008 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2018
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.030 0.667 3 2005 2014
dbSNP: rs17486278
rs17486278
CHRNA5
9 0.827 0.120 15 78575140 intron variant A/C snv 0.32 0.700 1.000 3 2015 2017