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: rs34911792
rs34911792
CFTR
2 0.925 0.160 7 117627758 missense variant T/G snv 5.0E-03 5.7E-03 0.720 1.000 2 1990 2011
dbSNP: rs36210737
rs36210737
CFTR
1 0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05 0.820 1.000 2 1990 2015
dbSNP: rs368505753
rs368505753
CFTR
1 0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05 0.820 0.973 2 1990 2017
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: rs397508453
rs397508453
CFTR
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 2 1993 2018
dbSNP: rs74503330
rs74503330
CFTR
2 0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06 0.820 1.000 2 1992 2016
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
2 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.020 1.000 2 1992 2008
dbSNP: rs80055610
rs80055610
CFTR
3 0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 0.820 1.000 2 1990 2015
dbSNP: rs115545701
rs115545701
CFTR
2 0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03 0.710 1.000 1 2010 2010
dbSNP: rs121908759
rs121908759
CFTR
2 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.710 1.000 1 2008 2015
dbSNP: rs121909019
rs121909019
CFTR
1 0.925 0.160 7 117611638 missense variant G/A;T snv 3.2E-05 0.810 1.000 1 1990 2015
dbSNP: rs121909044
rs121909044
CFTR
2 0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 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: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs144745159
rs144745159
CFTR
1 1.000 0.120 7 117587770 missense variant T/C snv 2.0E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs146521846
rs146521846
CFTR
2 0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.710 1.000 1 2009 2009
dbSNP: rs149353983
rs149353983
CFTR
1 1.000 0.120 7 117504291 missense variant G/A;T snv 5.6E-05; 3.2E-05 0.710 1.000 1 1995 2015
dbSNP: rs150157202
rs150157202
CFTR
2 0.925 0.120 7 117592427 missense variant G/A;T snv 1.8E-03 1.7E-03 0.710 1.000 1 1990 2010
dbSNP: rs1800080
rs1800080
CFTR
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
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: rs186089140
rs186089140
CFTR
2 0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
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: rs193922500
rs193922500
CFTR ; CFTR-AS1
2 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.710 1.000 1 2002 2012
dbSNP: rs267606723
rs267606723
CFTR
2 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.810 1.000 1 1991 2015
dbSNP: rs386134230
rs386134230
CFTR
1 0.925 0.160 7 117606674 missense variant G/A snv 1.2E-05 7.0E-06 0.710 1.000 1 1999 2019