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: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.030 1.000 3 2008 2016
dbSNP: rs1800463
rs1800463
SERPINA3
2 1.000 0.040 14 94614674 missense variant T/A;C snv 0.030 1.000 3 1993 2000
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.030 1.000 3 2010 2016
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.030 1.000 3 2012 2016
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.710 1.000 3 2010 2015
dbSNP: rs1982073
rs1982073
TGFB1
32 0.649 0.640 19 41353016 missense variant G/A;C snv 0.030 0.333 3 2004 2017
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.030 0.667 3 2010 2017
dbSNP: rs2076295
rs2076295
DSP
5 0.882 0.080 6 7562999 intron variant T/G snv 0.46 0.710 1.000 3 2017 2019
dbSNP: rs2241712
rs2241712
B9D2 ; TMEM91
3 0.882 0.120 19 41363851 intron variant C/T snv 0.71 0.030 1.000 3 2004 2017
dbSNP: rs2241718
rs2241718
TGFB1 ; CCDC97
4 0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15 0.030 0.667 3 2011 2017
dbSNP: rs2243639
rs2243639
SFTPD
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.030 0.667 3 2010 2019
dbSNP: rs2955083
rs2955083
EEFSEC
4 1.000 0.040 3 128242335 intron variant T/A snv 0.89 0.700 1.000 3 2017 2019
dbSNP: rs6495309
rs6495309
CHRNA3 ; CHRNB4
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.030 1.000 3 2012 2014
dbSNP: rs9399401
rs9399401
ADGRG6
4 1.000 0.040 6 142347764 intron variant T/C snv 0.31 0.700 1.000 3 2017 2019
dbSNP: rs10007052
rs10007052
RNF150
1 1.000 0.040 4 141084419 intron variant C/A snv 0.31 0.710 1.000 2 2012 2015
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.020 1.000 2 2017 2019
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.020 1.000 2 2019 2019
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 1.000 2 2010 2012
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2011 2016
dbSNP: rs11858836
rs11858836
IREB2
3 1.000 0.040 15 78490935 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs1441358
rs1441358
THSD4
3 1.000 0.040 15 71320175 intron variant T/G snv 0.38 0.700 1.000 2 2017 2019
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: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 2004 2008