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: rs193922525
rs193922525
CFTR
1 1.000 0.120 7 117664770 missense variant G/A snv 0.840 1.000 4 1995 2017
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: rs121908751
rs121908751
CFTR
1 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.820 1.000 2 1990 2015
dbSNP: rs121908752
rs121908752
CFTR
1 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.820 1.000 2 1990 2014
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: rs121909010
rs121909010
CFTR
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
dbSNP: rs141033578
rs141033578
CFTR
1 0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2013 2017
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: rs397508453
rs397508453
CFTR
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 2 1993 2018
dbSNP: rs397508538
rs397508538
CFTR
1 1.000 0.120 7 117611751 stop gained G/T snv 0.720 1.000 2 1995 2013
dbSNP: rs79660178
rs79660178
CFTR
1 1.000 0.120 7 117530991 stop gained T/A snv 0.720 1.000 2 1997 2004
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
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: 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: 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: 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: rs1396707015
rs1396707015
CFTR
1 1.000 0.120 7 117535273 stop gained G/A snv 0.010 1.000 1 2003 2003
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: 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: rs17140229
rs17140229
CFTR
1 1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02 0.010 1.000 1 2013 2013
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: 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: rs200901072
rs200901072
CFTR
1 1.000 0.120 7 117603610 synonymous variant G/A;C;T snv 4.8E-05; 8.0E-06; 4.0E-06 0.010 < 0.001 1 1995 1995
dbSNP: rs374946172
rs374946172
CFTR
1 0.925 0.160 7 117592520 stop gained C/T snv 1.1E-05 7.0E-06 0.710 1.000 1 2005 2014