Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
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
rs121908752
CFTR
0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 4
rs121908753
CFTR
0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 4
rs121908758
CFTR
0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 4
rs121908761
CFTR
0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 4
rs121908792
CFTR
0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 4
rs121908799
CFTR
0.851 0.160 7 117592218 frameshift variant AA/G delins 4
rs121908802
CFTR
0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06 4
rs35516286
CFTR
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 4
rs397508266
CFTR
0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 4
rs397508464
CFTR
0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 4
rs397508759
CFTR
0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 4