Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs193922500
CFTR-AS1 ; CFTR
0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 5
rs35169799
PLCB3
0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 5
rs61750120
ABCA4
0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 4
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
rs397508778
CFTR
0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 4
rs75039782
CFTR
0.851 0.160 7 117639961 intron variant C/G;T snv 4
rs75096551
CFTR
0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04 4
rs77284892
CFTR
0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05 4
rs77409459
CFTR
0.851 0.160 7 117540243 missense variant C/T snv 2.8E-05 1.4E-05 4
rs77834169
CFTR
0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04 4
rs78756941
CFTR
0.851 0.160 7 117531115 splice donor variant G/T snv 7.7E-05 1.0E-04 4
rs78802634
CFTR
0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 4
rs79850223
CFTR
0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 4
rs80055610
CFTR
0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 4
rs80224560
CFTR
0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 4