Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs75389940
CFTR
0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 3
rs146521846
CFTR
0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05 2
rs150157202
CFTR
0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 2
rs1800080
CFTR
0.925 0.120 7 117534330 missense variant A/G snv 2
rs397508185
CFTR ; CFTR-AS1
0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 2
rs1057516619
CFTR
1.000 0.120 7 117536669 stop gained A/T snv 1
rs121909010
CFTR
1.000 0.120 7 117652915 stop gained G/A snv 1
rs121909034
CFTR
1.000 0.120 7 117603609 stop gained C/A;T snv 1.1E-03 1
rs1396707015
CFTR
1.000 0.120 7 117535273 stop gained G/A snv 1
rs139729994
CFTR
0.925 0.120 7 117614713 missense variant G/A;T snv 4.0E-06; 1.3E-04 1
rs144745159
CFTR
1.000 0.120 7 117587770 missense variant T/C snv 2.0E-05 7.0E-06 1
rs149353983
CFTR
1.000 0.120 7 117504291 missense variant G/A;T snv 5.6E-05; 3.2E-05 1
rs17140229
CFTR
1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 1
rs193922525
CFTR
1.000 0.120 7 117664770 missense variant G/A snv 1
rs200901072
CFTR
1.000 0.120 7 117603610 synonymous variant G/A;C;T snv 4.8E-05; 8.0E-06; 4.0E-06 1
rs397508188
CFTR-AS1 ; CFTR
1.000 0.120 7 117548753 missense variant T/C snv 4.1E-06 1
rs397508195
CFTR ; CFTR-AS1
1.000 0.120 7 117548797 missense variant G/C;T snv 1
rs397508198
CFTR-AS1 ; CFTR
1.000 0.120 7 117548823 missense variant G/A;T snv 1
rs397508211
CFTR ; CFTR-AS1
1.000 0.120 7 117559537 stop gained C/A;T snv 4.0E-06 1
rs397508282
CFTR
1.000 0.120 7 117590387 missense variant G/A snv 1
rs397508310
CFTR
1.000 0.120 7 117591993 missense variant A/G;T snv 1
rs397508316
CFTR
1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06 1
rs397508323
CFTR
1.000 0.120 7 117592133 stop gained G/C;T snv 4.0E-06 1
rs397508336
CFTR
1.000 0.120 7 117592220 stop gained C/T snv 1
rs397508369
CFTR
1.000 0.120 7 117592513 missense variant C/A;T snv 1