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: rs397508139
rs397508139
CFTR
2 0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.810 1.000 1 1990 2015
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: rs397508276
rs397508276
CFTR
1 0.925 0.160 7 117590378 missense variant T/C;G snv 9.6E-05 0.810 1.000 1 1990 2015
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
dbSNP: rs397508316
rs397508316
CFTR
1 1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06 0.810 1.000 1 1990 2015
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: rs397508498
rs397508498
CFTR
1 0.925 0.160 7 117610637 missense variant C/A;T snv 4.0E-06 1.4E-05 0.710 1.000 1 2016 2016
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: rs397508635
rs397508635
CFTR
1 0.925 0.160 7 117480132 missense variant C/A;T snv 0.810 1.000 1 1990 2015
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: rs397508783
rs397508783
CFTR
1 0.925 0.160 7 117535363 missense variant T/A snv 2.4E-05 7.0E-06 0.710 1.000 1 2000 2015
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: 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: 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: 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