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: 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: rs397508266
rs397508266
CFTR
4 0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 0.700 0
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
5 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-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: 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: 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: rs78756941
rs78756941
CFTR
4 0.851 0.160 7 117531115 splice donor variant G/T snv 7.7E-05 1.0E-04 0.700 0
dbSNP: rs121908752
rs121908752
CFTR
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 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: rs75096551
rs75096551
CFTR
4 0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04 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: 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: 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