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: rs1051730
rs1051730
CHRNA3
37 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.900 1.000 13 2010 2018
dbSNP: rs8034191
rs8034191
HYKK
19 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.880 1.000 8 2009 2018
dbSNP: rs13180
rs13180
IREB2
2 0.851 0.160 15 78497146 synonymous variant C/T snv 0.54 0.51 0.850 1.000 5 2010 2018
dbSNP: rs7671167
rs7671167
FAM13A
2 0.925 0.040 4 88962828 intron variant C/T snv 0.53 0.840 1.000 4 2010 2015
dbSNP: rs13118928
rs13118928 		3 0.925 0.040 4 144565237 intron variant A/G snv 0.33 0.830 1.000 3 2010 2017
dbSNP: rs7937
rs7937
RAB4B ; MIA-RAB4B ; RAB4B-EGLN2
4 0.851 0.080 19 40796801 3 prime UTR variant C/A;T snv 0.49 0.830 1.000 3 2012 2018
dbSNP: rs1828591
rs1828591
LOC105377462
1 1.000 0.040 4 144559628 intron variant A/G snv 0.43 0.820 1.000 2 2009 2013
dbSNP: rs2869967
rs2869967
FAM13A ; LOC105377327
4 0.827 0.120 4 88948181 intron variant T/C snv 0.49 0.820 0.750 2 2010 2015
dbSNP: rs12914385
rs12914385
CHRNA3
8 0.790 0.160 15 78606381 intron variant C/A;T snv 0.810 1.000 1 2011 2018
dbSNP: rs9296092
rs9296092 		1 1.000 0.040 6 33510719 intergenic variant A/G snv 0.55 0.810 1.000 1 2011 2017
dbSNP: rs16969968
rs16969968
CHRNA5
34 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.780 0.889 8 2010 2018
dbSNP: rs2070600
rs2070600
AGER
75 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.760 1.000 6 2012 2019
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.740 1.000 4 2011 2019
dbSNP: rs10007052
rs10007052
RNF150
1 1.000 0.040 4 141084419 intron variant C/A snv 0.31 0.710 1.000 1 2012 2015
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.710 1.000 1 2019 2019
dbSNP: rs12591300
rs12591300
FAM227B
1 1.000 0.040 15 49412544 intron variant G/A snv 0.26 0.710 1.000 1 2011 2011
dbSNP: rs17580
rs17580
SERPINA1
8 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.710 1.000 1 2015 2015
dbSNP: rs1903003
rs1903003
FAM13A
1 0.925 0.080 4 88965146 intron variant C/G;T snv 0.710 1.000 1 2010 2015
dbSNP: rs2009746
rs2009746
IREB2
1 1.000 0.040 15 78461760 intron variant A/G snv 0.29 0.710 1.000 1 2015 2015
dbSNP: rs2076295
rs2076295
DSP
3 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.710 1.000 1 2017 2019
dbSNP: rs28929474
rs28929474
SERPINA1
17 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.710 1.000 1 1985 2015
dbSNP: rs7078012
rs7078012
SFTPD
1 1.000 0.040 10 79945677 intron variant C/T snv 0.20 0.710 1.000 1 2011 2012
dbSNP: rs7709630
rs7709630
PDZD2
1 1.000 0.040 5 31916265 intron variant T/A;C snv 0.710 1.000 1 2018 2018
dbSNP: rs8042238
rs8042238
IREB2
1 1.000 0.040 15 78481929 intron variant C/T snv 0.51 0.710 1.000 1 2014 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