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: 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: 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
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: 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: 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: 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: 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: 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: 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: rs76649725
rs76649725
CFTR
1 1.000 0.120 7 117642484 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.710 1.000 1 1993 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: 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: 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: rs121909005
rs121909005
CFTR
2 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.820 1.000 2 1990 2016
dbSNP: rs77010898
rs77010898
CFTR
11 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.800 1.000 11 1989 2019
dbSNP: rs397508323
rs397508323
CFTR
1 1.000 0.120 7 117592133 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2003 2003
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: 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: 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: 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: 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: 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: 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: 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: 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