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: 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: 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: 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: rs397508531
rs397508531
CFTR
1 1.000 0.120 7 117611733 missense variant T/C snv 0.810 1.000 1 1990 2015
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: 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: 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: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 1 1990 2018
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: 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: 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: 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: rs121909010
rs121909010
CFTR
1 1.000 0.120 7 117652915 stop gained G/A snv 0.720 1.000 2 1991 1993
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: rs267606723
rs267606723
CFTR
2 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.810 1.000 1 1991 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: 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: rs74503330
rs74503330
CFTR
2 0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06 0.820 1.000 2 1992 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: rs121908761
rs121908761
CFTR
1 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.710 1.000 1 1992 2013
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: 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: 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