Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800100
CFTR
0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 1
rs34911792
CFTR
0.925 0.160 7 117627758 missense variant T/G snv 5.0E-03 5.7E-03 1
rs1800111
CFTR
0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 2
rs150157202
CFTR
0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 1
rs35516286
CFTR
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 1
rs115545701
CFTR
0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03 2
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 2
rs11971167
CFTR
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 2
rs1800103
CFTR
0.925 0.160 7 117592588 missense variant A/G snv 7.7E-04 4.4E-04 1
rs150212784
CFTR
1.000 0.120 7 117611595 missense variant T/C;G snv 4.0E-06; 6.5E-04 1
rs78769542
CFTR
0.925 0.160 7 117611650 missense variant G/A;C snv 6.1E-04 1
rs143486492
CFTR
1.000 0.120 7 117540120 missense variant G/A snv 5.7E-04 5.7E-04 1
rs75541969
CFTR
0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 2
rs150691494
CFTR
1.000 0.120 7 117540132 missense variant A/G snv 2.9E-04 1.8E-04 1
rs147422190
CFTR ; CFTR-AS1
0.925 0.160 7 117548758 missense variant G/T snv 2.6E-04 3.3E-04 1
rs200321110
CFTR
0.925 0.160 7 117611646 missense variant G/A snv 2.6E-04 2.4E-04 1
rs77834169
CFTR
0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04 1
rs121908752
CFTR
0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 2
rs191456345
CFTR
0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 1
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 1
rs77646904
CFTR-AS1 ; CFTR
0.851 0.160 7 117559629 missense variant G/A;T snv 1.5E-04; 4.0E-06 1
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 1
rs1800097
CFTR
0.925 0.160 7 117590357 missense variant G/A;C snv 1.4E-04; 4.8E-05 2
rs201958172
CFTR
1.000 0.120 7 117530983 missense variant G/A;C;T snv 1.4E-04; 4.0E-06 1
rs145449046
CFTR
0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06 1