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: rs1554381596
rs1554381596
CFTR
1 1.000 0.120 7 117542014 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554381605
rs1554381605
CFTR ; CFTR-AS1
2 0.925 0.160 7 117542040 stop gained A/T snv 0.700 0
dbSNP: rs1554384343
rs1554384343
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559485 frameshift variant -/T delins 0.700 0
dbSNP: rs1554389241
rs1554389241
CFTR
1 1.000 0.120 7 117591933 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1554389486
rs1554389486
CFTR
1 1.000 0.120 7 117592639 frameshift variant -/CGAA delins 0.700 0
dbSNP: rs1554390864
rs1554390864
CFTR
2 0.925 0.160 7 117602847 frameshift variant -/TG delins 0.700 0
dbSNP: rs1554390958
rs1554390958
CFTR
1 1.000 0.120 7 117603530 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554391033
rs1554391033
CFTR
2 0.925 0.160 7 117603679 frameshift variant ACCACT/TCAGA delins 0.700 0
dbSNP: rs1554391454
rs1554391454
CFTR
1 1.000 0.120 7 117606677 frameshift variant TCTTAATAGATTCTCCAAAGATATAGCAATTTTGGAT/- delins 0.700 0
dbSNP: rs1554391491
rs1554391491
CFTR
1 1.000 0.120 7 117606749 frameshift variant -/C delins 0.700 0
dbSNP: rs1554392282
rs1554392282
CFTR
1 1.000 0.120 7 117611765 frameshift variant C/- del 0.700 0
dbSNP: rs1554392798
rs1554392798
CFTR
1 1.000 0.120 7 117614714 splice donor variant G/A snv 0.700 0
dbSNP: rs1554392800
rs1554392800
CFTR
1 1.000 0.120 7 117614714 splice donor variant -/T delins 0.700 0
dbSNP: rs1554392801
rs1554392801
CFTR
1 1.000 0.120 7 117614718 splice region variant G/A snv 0.700 0
dbSNP: rs1554396384
rs1554396384
CFTR
1 1.000 0.120 7 117652840 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554396393
rs1554396393
CFTR
1 1.000 0.120 7 117652865 frameshift variant -/T delins 0.700 0
dbSNP: rs1554397527
rs1554397527
CFTR
1 1.000 0.120 7 117664850 frameshift variant TGGAT/- delins 0.700 0
dbSNP: rs1554397593
rs1554397593
CFTR
1 1.000 0.120 7 117665521 frameshift variant G/- del 0.700 0
dbSNP: rs1554397750
rs1554397750
CFTR
1 1.000 0.120 7 117666917 frameshift variant G/- del 0.700 0
dbSNP: rs1554397769
rs1554397769
CFTR
1 1.000 0.120 7 117666991 frameshift variant C/- delins 0.700 0
dbSNP: rs1554397772
rs1554397772
CFTR
1 1.000 0.120 7 117667002 frameshift variant G/- delins 0.700 0
dbSNP: rs1554398510
rs1554398510
CFTR
1 1.000 0.120 7 117675861 intron variant C/T snv 0.700 0
dbSNP: rs1562876396
rs1562876396
CFTR
1 1.000 0.120 7 117480098 frameshift variant C/- del 0.700 0
dbSNP: rs1562876459
rs1562876459
CFTR
1 1.000 0.120 7 117480138 missense variant T/C snv 0.700 0
dbSNP: rs1562882675
rs1562882675
CFTR
1 1.000 0.120 7 117504251 splice region variant CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG/- delins 0.700 0