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: rs121908811
rs121908811
CFTR
2 0.925 0.160 7 117627712 frameshift variant C/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121909018
rs121909018
CFTR
1 1.000 0.120 7 117592646 stop gained G/T snv 0.700 0
dbSNP: rs121909021
rs121909021
CFTR
2 0.925 0.160 7 117540276 missense variant C/T snv 1.1E-04 1.5E-04 0.700 0
dbSNP: rs121909023
rs121909023
CFTR
1 1.000 0.120 7 117592313 stop gained A/T snv 0.700 0
dbSNP: rs121909045
rs121909045
CFTR
1 1.000 0.120 7 117480113 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs121909046
rs121909046
CFTR
1 1.000 0.120 7 117535318 missense variant A/G snv 4.4E-03 3.3E-03 0.700 0
dbSNP: rs1235397597
rs1235397597
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548640 splice region variant G/- delins 0.700 0
dbSNP: rs1263488842
rs1263488842
CFTR
1 1.000 0.120 7 117606669 coding sequence variant -/GTGGGATTCTTAATAG delins 7.0E-06 0.700 0
dbSNP: rs1317756653
rs1317756653
CFTR
1 1.000 0.120 7 117480145 frameshift variant C/- del 0.700 0
dbSNP: rs1330431481
rs1330431481
CFTR
1 1.000 0.120 7 117536674 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs140455771
rs140455771
CFTR
2 0.925 0.160 7 117592416 missense variant C/T snv 2.9E-04 4.0E-04 0.700 0
dbSNP: rs141482808
rs141482808
CFTR
2 0.925 0.160 7 117534357 missense variant T/G snv 1.2E-05 6.3E-05 0.700 0
dbSNP: rs144476686
rs144476686
CFTR
1 1.000 0.120 7 117540188 missense variant T/G snv 6.3E-04 4.2E-04 0.700 0
dbSNP: rs144781064
rs144781064
CFTR
1 1.000 0.120 7 117627770 splice region variant G/A snv 8.1E-06 0.700 0
dbSNP: rs145449046
rs145449046
CFTR
2 0.925 0.160 7 117592541 stop gained C/G;T snv 1.3E-04; 5.5E-06 0.700 0
dbSNP: rs1470125842
rs1470125842
CFTR
1 1.000 0.120 7 117611809 splice donor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs147422190
rs147422190
CFTR ; CFTR-AS1
2 0.925 0.160 7 117548758 missense variant G/T snv 2.6E-04 3.3E-04 0.700 0
dbSNP: rs1481564133
rs1481564133
CFTR
1 1.000 0.120 7 117592110 frameshift variant A/- del 0.700 0
dbSNP: rs148519623
rs148519623
CFTR
2 0.925 0.160 7 117536598 missense variant T/G snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs1554375870
rs1554375870
CFTR
1 1.000 0.120 7 117504364 splice donor variant -/T delins 0.700 0
dbSNP: rs1554379899
rs1554379899
CFTR
1 1.000 0.120 7 117531112 frameshift variant A/- delins 0.700 0
dbSNP: rs1554380311
rs1554380311
CFTR
1 1.000 0.120 7 117534291 frameshift variant -/G delins 0.700 0
dbSNP: rs1554380465
rs1554380465
CFTR
1 1.000 0.120 7 117535324 frameshift variant -/A delins 0.700 0
dbSNP: rs1554380497
rs1554380497
CFTR
1 1.000 0.120 7 117535383 frameshift variant G/- delins 0.700 0
dbSNP: rs1554380789
rs1554380789
CFTR
1 1.000 0.120 7 117536615 frameshift variant T/- del 0.700 0