Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 9
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 9
rs74551128
CFTR-AS1 ; CFTR
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 8
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 8
rs113857788
CFTR
0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 5
rs121909005
CFTR
0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 5
rs193922500
CFTR-AS1 ; CFTR
0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 5
rs74767530
CFTR
0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 5
rs121908757
CFTR
0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 3
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs4925
GSTO1
0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 14
rs1965708
SFTPA2
0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 6
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs35169799
PLCB3
0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 5
rs1221395132
PHRF1 ; IRF7
11 612721 missense variant C/T snv 7.0E-06 1
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 37
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs761711628
SERPINA1
14 94379496 missense variant C/A;T snv 1.4E-04 2.1E-05 1
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 4
rs764491141
TGFB1
19 41352886 synonymous variant G/A snv 1
rs1078761
BPIFB1
1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 2
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs3788766
SLC6A14
1.000 0.040 X 116435671 upstream gene variant G/A snv 2