Gene: CFTR ×
Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.100 0.875 16 1991 2019
dbSNP: rs121908757
rs121908757
CFTR
2 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.720 1.000 2 1991 2016
dbSNP: rs397508288
rs397508288
CFTR
2 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.820 1.000 2 1990 2015
dbSNP: rs397508462
rs397508462
CFTR
1 1.000 0.120 7 117606701 missense variant A/C;G;T snv 3.6E-05; 4.0E-06 0.730 1.000 3 1997 2001
dbSNP: rs75389940
rs75389940
CFTR
3 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.830 1.000 3 2001 2017
dbSNP: rs1800080
rs1800080
CFTR
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs191456345
rs191456345
CFTR
1 0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs397508185
rs397508185
CFTR ; CFTR-AS1
2 0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs397508731
rs397508731
CFTR
1 1.000 0.120 7 117531109 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs758675549
rs758675549
CFTR
2 0.925 0.200 7 117530938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs397508310
rs397508310
CFTR
1 1.000 0.120 7 117591993 missense variant A/G;T snv 0.710 1.000 1 2002 2017
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
dbSNP: rs121908758
rs121908758
CFTR
3 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.830 1.000 3 1990 2015
dbSNP: rs121909047
rs121909047
CFTR
1 0.925 0.160 7 117590355 missense variant C/A snv 1.2E-05 2.1E-05 0.810 1.000 1 1990 2016
dbSNP: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 2018
dbSNP: rs121908761
rs121908761
CFTR
1 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.710 1.000 1 1992 2013
dbSNP: rs75053309
rs75053309
CFTR
1 1.000 0.120 7 117540309 missense variant C/A;G;T snv 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
6 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.880 0.979 8 1990 2016
dbSNP: rs121908803
rs121908803
CFTR
1 0.925 0.160 7 117535281 missense variant C/A;T snv 4.0E-06 7.0E-06 0.820 1.000 2 1990 2015
dbSNP: rs121909034
rs121909034
CFTR
1 1.000 0.120 7 117603609 stop gained C/A;T snv 1.1E-03 0.710 1.000 1 1993 2015
dbSNP: rs1800100
rs1800100
CFTR
1 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs397508211
rs397508211
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559537 stop gained C/A;T snv 4.0E-06 0.710 1.000 1 2004 2013
dbSNP: rs397508369
rs397508369
CFTR
1 1.000 0.120 7 117592513 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs397508498
rs397508498
CFTR
1 0.925 0.160 7 117610637 missense variant C/A;T snv 4.0E-06 1.4E-05 0.710 1.000 1 2016 2016
dbSNP: rs397508635
rs397508635
CFTR
1 0.925 0.160 7 117480132 missense variant C/A;T snv 0.810 1.000 1 1990 2015