Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1221395132
PHRF1 ; IRF7
11 612721 missense variant C/T snv 7.0E-06 1
rs761711628
SERPINA1
14 94379496 missense variant C/A;T snv 1.4E-04 2.1E-05 1
rs764491141
TGFB1
19 41352886 synonymous variant G/A snv 1
rs778055276
LOC105374071 ; PARP9
3 122555701 missense variant T/C snv 4.4E-05 3.5E-05 1
rs11575934
IL12RB1
0.882 0.040 19 18075808 missense variant T/C snv 0.28 0.25 4
rs17563161
SLC9A3
0.882 0.040 5 497509 intron variant G/A snv 0.18 4
rs3788766
SLC6A14
1.000 0.040 X 116435671 upstream gene variant G/A snv 2
rs772717932
IL1B
1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 2
rs121917834
SFTPC
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 10
rs1078761
BPIFB1
1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 2
rs1143639
IL1B
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 2
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs1130866
SFTPB
0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 9
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins 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
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
rs121908757
CFTR
0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 3
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 10
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 9
rs1965708
SFTPA2
0.851 0.200 10 79557289 missense variant G/T snv 0.22 0.25 6
rs35169799
PLCB3
0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 5
rs7512462
SLC26A9
0.882 0.200 1 205930467 intron variant T/C snv 0.38 4