Source: ALL
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: rs121909009
rs121909009
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548804 missense variant G/T snv 0.800 1.000 34 1990 2015
dbSNP: rs121909015
rs121909015
CFTR
1 1.000 0.120 7 117642593 missense variant G/C snv 8.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs121909016
rs121909016
CFTR
1 1.000 0.120 7 117540163 missense variant C/G snv 0.800 1.000 34 1990 2015
dbSNP: rs121909028
rs121909028
CFTR
1 1.000 0.120 7 117642577 missense variant T/C snv 0.800 1.000 34 1990 2015
dbSNP: rs121909031
rs121909031
CFTR
1 1.000 0.120 7 117530951 missense variant A/G snv 0.800 1.000 34 1990 2015
dbSNP: rs121909033
rs121909033
CFTR
1 1.000 0.120 7 117592110 missense variant A/T snv 0.800 1.000 34 1990 2015
dbSNP: rs121909035
rs121909035
CFTR
1 1.000 0.120 7 117603719 missense variant C/T snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs121909037
rs121909037
CFTR
1 1.000 0.120 7 117611653 missense variant A/C;G snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs121909042
rs121909042
CFTR
1 1.000 0.120 7 117652875 missense variant A/C;T snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs142394380
rs142394380
CFTR
2 0.925 0.160 7 117611622 missense variant G/C snv 4.0E-06 7.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs201978662
rs201978662
CFTR
1 1.000 0.120 7 117592004 missense variant G/A snv 7.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs397508146
rs397508146
CFTR
1 1.000 0.120 7 117540267 missense variant T/C snv 0.800 1.000 34 1990 2015
dbSNP: rs397508223
rs397508223
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559581 stop gained G/C;T snv 0.800 1.000 34 1990 2015
dbSNP: rs397508272
rs397508272
CFTR
1 1.000 0.120 7 117509038 missense variant T/C;G snv 0.800 1.000 34 1990 2015
dbSNP: rs397508277
rs397508277
CFTR
1 1.000 0.120 7 117590379 missense variant A/G snv 0.800 1.000 34 1990 2015
dbSNP: rs397508378
rs397508378
CFTR
2 0.925 0.160 7 117592631 stop gained G/A;T snv 5.2E-06 0.800 1.000 34 1990 2015
dbSNP: rs397508480
rs397508480
CFTR
2 0.925 0.160 7 117610547 missense variant C/A snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs397508616
rs397508616
CFTR
1 1.000 0.120 7 117642564 missense variant T/C;G snv 0.800 1.000 34 1990 2015
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs121909013
rs121909013
CFTR
1 1.000 0.120 7 117587805 missense variant G/A snv 4.0E-06 0.800 1.000 28 1990 2012
dbSNP: rs121909041
rs121909041
CFTR
1 1.000 0.120 7 117642483 missense variant T/A;C snv 4.0E-06 0.800 1.000 28 1990 2016
dbSNP: rs79635528
rs79635528
CFTR
1 1.000 0.120 7 117611695 missense variant A/C;G snv 4.0E-06 0.800 1.000 27 1993 2015
dbSNP: rs139468767
rs139468767
CFTR
2 0.925 0.160 7 117592020 missense variant T/C snv 2.2E-05 1.6E-04 0.800 1.000 22 1990 2010
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.800 1.000 20 1990 2010
dbSNP: rs80282562
rs80282562
CFTR
4 0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05 0.800 1.000 18 1997 2015