Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 40
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 25
rs1223231582
PRSS1
0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 24
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 18
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs77010898
CFTR
0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 13
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
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 6
rs17235416
SLC11A1
0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 6
rs121908758
CFTR
0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 4
rs35516286
CFTR
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 4
rs80055610
CFTR
0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 4
rs77101217
CFTR-AS1 ; CFTR
0.851 0.160 7 117559548 stop gained C/T snv 2.0E-05 7.0E-06 4
rs77646904
CFTR-AS1 ; CFTR
0.851 0.160 7 117559629 missense variant G/A;T snv 1.5E-04; 4.0E-06 4
rs79282516
CFTR-AS1 ; CFTR
0.851 0.160 7 117559509 missense variant G/A;T snv 4
rs17563161
SLC9A3
0.882 0.040 5 497509 intron variant G/A snv 0.18 4
rs75389940
CFTR
0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 3