Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 14
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 14
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
rs5030737
MBL2
0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 11
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 10
rs1800076
CFTR
0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 10
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 10
rs397508638
CFTR
0.807 0.160 7 117652871 frameshift variant A/-;AA delins 9
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
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 8
rs74551128
CFTR-AS1 ; CFTR
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 8
rs11003125
MBL2
0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 7
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 6
rs76371115
CFTR
0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 6
rs113993960
CFTR ; CFTR-AS1
0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 6
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs113857788
CFTR
0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 5
rs121908759
CFTR
0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 5
rs121909005
CFTR
0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 5
rs142920240
CFTR
0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 5
rs1800111
CFTR
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 5
rs267606723
CFTR
0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 5
rs74767530
CFTR
0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 5