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: rs1143639
rs1143639
IL1B
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1221395132
rs1221395132
IRF7 ; PHRF1
1 11 612721 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17563161
rs17563161
SLC9A3
4 0.882 0.040 5 497509 intron variant G/A snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3788766
rs3788766
SLC6A14
2 1.000 0.040 X 116435671 upstream gene variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 < 0.001 1 1992 1992
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs7512462
rs7512462
SLC26A9
4 0.882 0.200 1 205930467 intron variant T/C snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs764491141
rs764491141
TGFB1
1 19 41352886 synonymous variant G/A snv 0.010 < 0.001 1 2009 2009
dbSNP: rs772717932
rs772717932
IL1B
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908757
rs121908757
CFTR
3 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121909005
rs121909005
CFTR
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1078761
rs1078761
BPIFB1
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2000 2019
dbSNP: rs77932196
rs77932196
CFTR
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 1995 1995
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.030 1.000 3 2005 2009
dbSNP: rs778055276
rs778055276
PARP9 ; LOC105374071
1 3 122555701 missense variant T/C snv 4.4E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.020 1.000 2 1995 1995
dbSNP: rs74767530
rs74767530
CFTR
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1992 1992