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: 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: 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: 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: 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: 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: 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: 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: 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: rs121909010
rs121909010
CFTR
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
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: rs1800076
rs1800076
CFTR
9 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 1991 2011
dbSNP: rs36210737
rs36210737
CFTR
1 0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05 0.820 1.000 2 1990 2015
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: rs397508453
rs397508453
CFTR
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 2 1993 2018
dbSNP: rs397508538
rs397508538
CFTR
1 1.000 0.120 7 117611751 stop gained G/T snv 0.720 1.000 2 1995 2013
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: rs79660178
rs79660178
CFTR
1 1.000 0.120 7 117530991 stop gained T/A snv 0.720 1.000 2 1997 2004