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: rs397508464
rs397508464
CFTR
4 0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs137852712
rs137852712
SCNN1B
1 1.000 0.040 16 23367942 missense variant A/G snv 8.0E-06 0.800 1.000 3 2005 2009
dbSNP: rs397508266
rs397508266
CFTR
4 0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 0.700 0
dbSNP: rs121908799
rs121908799
CFTR
4 0.851 0.160 7 117592218 frameshift variant AA/G delins 0.700 0
dbSNP: rs137852711
rs137852711
SCNN1B
1 1.000 0.040 16 23371836 missense variant C/A snv 4.4E-05 1.3E-04 0.800 1.000 3 2005 2009
dbSNP: rs121908761
rs121908761
CFTR
4 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.700 0
dbSNP: rs77834169
rs77834169
CFTR
4 0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04 0.700 0
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.700 0
dbSNP: rs35731153
rs35731153
SCNN1B
1 1.000 0.040 16 23348844 missense variant C/G snv 4.8E-03 4.6E-03 0.800 1.000 3 2005 2009
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs75039782
rs75039782
CFTR
4 0.851 0.160 7 117639961 intron variant C/G;T snv 0.700 0
dbSNP: rs137852709
rs137852709
SCNN1B
1 1.000 0.040 16 23367879 missense variant C/T snv 0.800 1.000 3 2005 2009
dbSNP: rs121908802
rs121908802
CFTR
4 0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121909011
rs121909011
CFTR
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.700 0
dbSNP: rs121909017
rs121909017
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559546 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs397508778
rs397508778
CFTR
4 0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs79850223
rs79850223
CFTR
4 0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs137852710
rs137852710
SCNN1B
1 1.000 0.040 16 23380493 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 3 2005 2009
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs121908759
rs121908759
CFTR
5 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.700 0
dbSNP: rs61759921
rs61759921
SCNN1B
1 1.000 0.040 16 23371460 missense variant G/A snv 6.0E-05 7.7E-05 0.700 0
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
dbSNP: rs78802634
rs78802634
CFTR
4 0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 0.700 0
dbSNP: rs80224560
rs80224560
CFTR
4 0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05 0.700 0
dbSNP: rs80282562
rs80282562
CFTR
4 0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05 0.700 0