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: 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: rs397508336
rs397508336
CFTR
1 1.000 0.120 7 117592220 stop gained C/T snv 0.710 1.000 1 1994 1994
dbSNP: rs397508369
rs397508369
CFTR
1 1.000 0.120 7 117592513 missense variant C/A;T snv 0.010 1.000 1 2002 2002
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: rs397508527
rs397508527
CFTR
1 1.000 0.120 7 117611719 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs397508531
rs397508531
CFTR
1 1.000 0.120 7 117611733 missense variant T/C snv 0.810 1.000 1 1990 2015
dbSNP: rs397508599
rs397508599
CFTR
1 1.000 0.120 7 117642450 missense variant G/A snv 0.010 1.000 1 2006 2006
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: rs397508725
rs397508725
CFTR
1 1.000 0.120 7 117531098 missense variant G/A;C snv 7.2E-05; 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs397508731
rs397508731
CFTR
1 1.000 0.120 7 117531109 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs397508786
rs397508786
CFTR
1 1.000 0.120 7 117535381 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs75053309
rs75053309
CFTR
1 1.000 0.120 7 117540309 missense variant C/A;G;T snv 1.0E-04 0.010 1.000 1 2018 2018
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: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 2018
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: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.100 0.875 16 1991 2019
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.900 0.966 16 1990 2019
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
6 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.880 0.979 8 1990 2016
dbSNP: rs121909011
rs121909011
CFTR
3 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.850 1.000 5 1990 2015
dbSNP: rs35516286
rs35516286
CFTR
3 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.840 1.000 4 2001 2017
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.730 0.941 3 2001 2017
dbSNP: rs121908758
rs121908758
CFTR
3 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.830 1.000 3 1990 2015
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