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: 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: 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: rs386134230
rs386134230
CFTR
1 0.925 0.160 7 117606674 missense variant G/A snv 1.2E-05 7.0E-06 0.710 1.000 1 1999 2019
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: 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: 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: rs397508453
rs397508453
CFTR
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 2 1993 2018
dbSNP: rs186089140
rs186089140
CFTR
2 0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs397508731
rs397508731
CFTR
1 1.000 0.120 7 117531109 missense variant A/G snv 0.010 < 0.001 1 2018 2018
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: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 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: 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: 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: 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: 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: rs1800111
rs1800111
CFTR
2 0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03 0.720 1.000 2 1990 2017
dbSNP: rs368505753
rs368505753
CFTR
1 0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05 0.820 0.973 2 1990 2017
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
dbSNP: rs397508282
rs397508282
CFTR
1 1.000 0.120 7 117590387 missense variant G/A snv 0.710 1.000 1 1990 2017
dbSNP: rs397508310
rs397508310
CFTR
1 1.000 0.120 7 117591993 missense variant A/G;T snv 0.710 1.000 1 2002 2017