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: rs1057516457
rs1057516457
CFTR
2 0.925 0.160 7 117664711 frameshift variant CA/- delins 0.700 0
dbSNP: rs113993958
rs113993958
CFTR
3 0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06 0.800 0
dbSNP: rs113993960
rs113993960
CFTR ; CFTR-AS1
6 0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 0.700 0
dbSNP: rs121908745
rs121908745
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559587 inframe deletion ATC/- delins 0.700 0
dbSNP: rs121908746
rs121908746
CFTR
2 0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 7.7E-05 0.700 0
dbSNP: rs121908748
rs121908748
CFTR
2 0.925 0.160 7 117590440 splice donor variant G/A;C;T snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs121908749
rs121908749
CFTR
2 0.925 0.160 7 117509092 stop gained C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.700 0
dbSNP: rs121908757
rs121908757
CFTR
3 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs121908758
rs121908758
CFTR
4 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121908760
rs121908760
CFTR
2 0.925 0.160 7 117592292 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs121908761
rs121908761
CFTR
4 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.700 0
dbSNP: rs121908767
rs121908767
CFTR
2 0.925 0.160 7 117610593 inframe deletion ATAGTG/- delins 0.700 0
dbSNP: rs121908768
rs121908768
CFTR
2 0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05 0.700 0
dbSNP: rs121908769
rs121908769
CFTR
2 0.925 0.160 7 117509128 frameshift variant TT/- delins 1.5E-04 0.700 0
dbSNP: rs121908771
rs121908771
CFTR
2 0.925 0.160 7 117534316 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs121908779
rs121908779
CFTR
2 0.925 0.160 7 117592090 frameshift variant CTCAAAACT/A delins 0.700 0
dbSNP: rs121908780
rs121908780
CFTR
2 0.925 0.160 7 117592140 frameshift variant GAAATTCAATCCT/AGAAA delins 0.700 0
dbSNP: rs121908784
rs121908784
CFTR
2 0.925 0.160 7 117642464 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs121908785
rs121908785
CFTR ; CFTR-AS1
2 0.925 0.160 7 117542050 frameshift variant -/TA delins 0.700 0
dbSNP: rs121908786
rs121908786
CFTR
2 0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 0.700 0
dbSNP: rs121908789
rs121908789
CFTR
2 0.925 0.160 7 117642487 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs121908792
rs121908792
CFTR
4 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 0.700 0