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: rs121909044
rs121909044
CFTR
2 0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06 0.710 1.000 35 1990 2015
dbSNP: rs397508195
rs397508195
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548797 missense variant G/C;T snv 0.710 1.000 35 1990 2015
dbSNP: rs397508282
rs397508282
CFTR
1 1.000 0.120 7 117590387 missense variant G/A snv 0.710 1.000 35 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 35 1990 2015
dbSNP: rs397508531
rs397508531
CFTR
1 1.000 0.120 7 117611733 missense variant T/C snv 0.810 1.000 35 1990 2015
dbSNP: rs77902683
rs77902683
CFTR
1 1.000 0.120 7 117642568 missense variant G/A;T snv 4.0E-06 0.810 1.000 35 1990 2015
dbSNP: rs121908750
rs121908750
CFTR
1 1.000 0.120 7 117509140 missense variant G/A snv 4.0E-06 0.800 1.000 34 1990 2015
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: rs121909020
rs121909020
CFTR
1 1.000 0.120 7 117611640 missense variant G/A;C snv 4.0E-06 0.700 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: 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: rs397508280
rs397508280
CFTR
1 1.000 0.120 7 117590385 missense variant T/C snv 0.700 1.000 34 1990 2015
dbSNP: rs397508306
rs397508306
CFTR
1 1.000 0.120 7 117591968 missense variant A/G;T snv 4.3E-06; 4.3E-06 0.700 1.000 34 1990 2015
dbSNP: rs397508311
rs397508311
CFTR
1 1.000 0.120 7 117591996 missense variant T/C snv 0.700 1.000 34 1990 2015
dbSNP: rs397508313
rs397508313
CFTR
1 1.000 0.120 7 117592023 missense variant T/C snv 0.700 1.000 34 1990 2015