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: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.100 1.000 10 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
dbSNP: rs397508195
rs397508195
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548797 missense variant G/C;T snv 0.710 1.000 1 1990 2015
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: rs397508282
rs397508282
CFTR
1 1.000 0.120 7 117590387 missense variant G/A snv 0.710 1.000 1 1990 2017
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: rs397508336
rs397508336
CFTR
1 1.000 0.120 7 117592220 stop gained C/T snv 0.710 1.000 1 1994 1994
dbSNP: rs397508435
rs397508435
CFTR
1 1.000 0.120 7 117603654 missense variant T/A;C snv 0.710 1.000 1 1994 2015
dbSNP: rs397508467
rs397508467
CFTR
1 1.000 0.120 7 117530921 missense variant C/T snv 8.0E-06 0.710 1.000 1 1996 1996
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: rs397508702
rs397508702
CFTR
1 1.000 0.120 7 117665556 stop gained C/T snv 4.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs397508718
rs397508718
CFTR
1 0.925 0.160 7 117531070 stop gained G/A;T snv 0.710 1.000 1 2008 2012
dbSNP: rs397508778
rs397508778
CFTR
1 0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 0.710 1.000 1 1994 2006