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: 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: 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: 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: rs397508139
rs397508139
CFTR
2 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 1 1990 2015
dbSNP: rs397508276
rs397508276
CFTR
1 0.925 0.160 7 117590378 missense variant T/C;G snv 9.6E-05 0.810 1.000 1 1990 2015
dbSNP: rs397508316
rs397508316
CFTR
1 1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06 0.810 1.000 1 1990 2015
dbSNP: rs397508531
rs397508531
CFTR
1 1.000 0.120 7 117611733 missense variant T/C snv 0.810 1.000 1 1990 2015
dbSNP: rs397508635
rs397508635
CFTR
1 0.925 0.160 7 117480132 missense variant C/A;T snv 0.810 1.000 1 1990 2015
dbSNP: rs75549581
rs75549581
CFTR
1 0.925 0.160 7 117587829 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.810 1.000 1 1990 2015
dbSNP: rs75961395
rs75961395
CFTR
9 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.810 1.000 1 1990 2015
dbSNP: rs77902683
rs77902683
CFTR
1 1.000 0.120 7 117642568 missense variant G/A;T snv 4.0E-06 0.810 1.000 1 1990 2015
dbSNP: rs78194216
rs78194216
CFTR
1 0.925 0.160 7 117611637 missense variant C/A;T snv 3.2E-05 0.810 1.000 1 1990 2015
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
3 0.851 0.160 7 117559509 missense variant G/A;T snv 0.810 1.000 1 1992 2015
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
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: 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: 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: 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: 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: 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: 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
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