Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs984281283
CFTR
1.000 0.120 7 117592562 stop gained C/A;T snv 1.1E-05 1
rs9300298
ADIPOR2
1.000 0.120 12 1757038 intron variant T/A snv 0.55 1
rs9268905
HLA-DRB9
0.925 0.280 6 32464300 intron variant G/C snv 0.29 2
rs886043448
DNAH5
0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 4
rs886042527
CFTR
1.000 0.120 7 117664721 frameshift variant G/- delins 1
rs880633
CHI3L1
0.925 0.160 1 203183673 missense variant T/C snv 0.45 0.41 2
rs871799 1.000 0.120 1 203200743 intergenic variant C/G snv 0.18 1
rs80357113
BRCA1
0.925 0.200 17 43094281 missense variant T/C snv 2
rs80282562
CFTR
0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05 4
rs80224560
CFTR
0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 4
rs80055610
CFTR
0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 4
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 9
rs79850223
CFTR
0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 4
rs797045162
CFTR
1.000 0.120 7 117592219 frameshift variant -/C delins 1
rs797045161
CFTR-AS1 ; CFTR
1.000 0.120 7 117548796 frameshift variant GG/- del 1
rs797045160
CFTR
1.000 0.120 7 117542015 splice acceptor variant G/A snv 1
rs797045159
CFTR
1.000 0.120 7 117642465 frameshift variant G/- delins 1
rs797045156
CFTR
1.000 0.120 7 117592629 frameshift variant TG/- delins 1
rs79660178
CFTR
1.000 0.120 7 117530991 stop gained T/A snv 1
rs79635528
CFTR
1.000 0.120 7 117611695 missense variant A/C;G snv 4.0E-06 1
rs79633941
CFTR
1.000 0.120 7 117603542 stop gained C/T snv 2.8E-05 1
rs7929679
LOC102723568
0.925 0.120 11 34784302 regulatory region variant A/G snv 0.54 2
rs79282516
CFTR-AS1 ; CFTR
0.851 0.160 7 117559509 missense variant G/A;T snv 4
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs79031340
CFTR
0.925 0.160 7 117540218 stop gained G/T snv 2.1E-05 2