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: rs1562882755
rs1562882755
CFTR
1 1.000 0.120 7 117504342 frameshift variant ATCT/- delins 0.700 0
dbSNP: rs1562884046
rs1562884046
CFTR
1 1.000 0.120 7 117509110 frameshift variant T/- delins 0.700 0
dbSNP: rs1562889180
rs1562889180
CFTR
1 1.000 0.120 7 117530897 splice donor variant AAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGAAGG/- delins 0.700 0
dbSNP: rs1562889382
rs1562889382
CFTR
1 1.000 0.120 7 117531057 frameshift variant C/- delins 0.700 0
dbSNP: rs1562890223
rs1562890223
CFTR
1 1.000 0.120 7 117534345 frameshift variant A/- delins 0.700 0
dbSNP: rs1562891084
rs1562891084
CFTR
1 1.000 0.120 7 117536668 frameshift variant AGACA/- delins 0.700 0
dbSNP: rs1562892293
rs1562892293
CFTR
1 1.000 0.120 7 117540275 missense variant G/C snv 0.700 0
dbSNP: rs1562892359
rs1562892359
CFTR
1 1.000 0.120 7 117540313 frameshift variant -/TATGA delins 0.700 0
dbSNP: rs1562892387
rs1562892387
CFTR
1 1.000 0.120 7 117540345 frameshift variant A/- del 0.700 0
dbSNP: rs1562892823
rs1562892823
CFTR ; CFTR-AS1
1 1.000 0.120 7 117542025 stop gained C/T snv 0.700 0
dbSNP: rs1562892895
rs1562892895
CFTR ; CFTR-AS1
1 1.000 0.120 7 117542095 frameshift variant C/- delins 0.700 0
dbSNP: rs1562894928
rs1562894928
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548639 splice donor variant GATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAAACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTCCTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACTGGAGCAGGCAAGG/- delins 0.700 0
dbSNP: rs1562895066
rs1562895066
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548754 frameshift variant TATTAATTTCAAGATAGAAAGA/- delins 0.700 0
dbSNP: rs1562895128
rs1562895128
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548789 missense variant T/C snv 0.700 0
dbSNP: rs1562898465
rs1562898465
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559596 missense variant G/C snv 0.700 0
dbSNP: rs1562898471
rs1562898471
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559600 frameshift variant TT/- delins 0.700 0
dbSNP: rs1562898489
rs1562898489
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559617 frameshift variant GA/- delins 0.700 0
dbSNP: rs1562898496
rs1562898496
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559621 missense variant A/G snv 0.700 0
dbSNP: rs1562898510
rs1562898510
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559630 missense variant T/A snv 0.700 0
dbSNP: rs1562906265
rs1562906265
CFTR
1 1.000 0.120 7 117587737 splice donor variant ACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAGG/- delins 0.700 0
dbSNP: rs1562907232
rs1562907232
CFTR
1 1.000 0.120 7 117590406 frameshift variant TA/- del 0.700 0
dbSNP: rs1562907260
rs1562907260
CFTR
1 1.000 0.120 7 117590433 missense variant T/C snv 0.700 0
dbSNP: rs1562907873
rs1562907873
CFTR
1 1.000 0.120 7 117592103 stop gained G/T snv 0.700 0
dbSNP: rs1562908889
rs1562908889
CFTR
1 1.000 0.120 7 117594928 splice donor variant AGTGCTTTTTTGATGATATGGAGAGCATACCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATTTTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAGG/- delins 0.700 0
dbSNP: rs1562911661
rs1562911661
CFTR
1 1.000 0.120 7 117603684 frameshift variant -/G delins 0.700 0