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: rs80055610
rs80055610
CFTR
3 0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 0.820 1.000 2 1990 2015
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: rs79850223
rs79850223
CFTR
1 0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 0.710 1.000 1 1992 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: 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: rs78802634
rs78802634
CFTR
1 0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 0.710 1.000 1 1992 2019
dbSNP: rs78769542
rs78769542
CFTR
2 0.925 0.160 7 117611650 missense variant G/A;C snv 6.1E-04 0.710 1.000 1 2001 2015
dbSNP: rs78655421
rs78655421
CFTR
17 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.900 0.985 25 1992 2019
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: rs77932196
rs77932196
CFTR
7 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.840 1.000 4 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: rs77284892
rs77284892
CFTR
1 0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05 0.710 1.000 1 1992 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: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 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: 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: 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: 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: rs75541969
rs75541969
CFTR
8 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.730 1.000 3 1990 2015
dbSNP: rs75527207
rs75527207
CFTR
12 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.900 0.980 69 1990 2020
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: 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: rs74767530
rs74767530
CFTR
4 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.710 1.000 1 1993 1993
dbSNP: rs74597325
rs74597325
CFTR
3 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.800 1.000 12 1990 2017
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
2 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.020 1.000 2 1992 2008