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: 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: 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: 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
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: rs397508185
rs397508185
CFTR ; CFTR-AS1
2 0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs397508188
rs397508188
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548753 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
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: rs397508198
rs397508198
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548823 missense variant G/A;T snv 0.010 1.000 1 2015 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: 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: 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: 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: 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: rs113993959
rs113993959
CFTR
8 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.800 1.000 14 1991 2018
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: 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: 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: rs193922525
rs193922525
CFTR
1 1.000 0.120 7 117664770 missense variant G/A snv 0.840 1.000 4 1995 2017
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: 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: 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: rs121908755
rs121908755
CFTR
2 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.830 0.978 3 1990 2016
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: 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