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: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs4077468
rs4077468
SLC26A9-AS1
2 0.925 0.200 1 205945629 upstream gene variant A/G snv 0.36 0.700 1.000 1 2013 2013
dbSNP: rs504348
rs504348
ABCC1 ; LOC107984869
1 1.000 0.120 16 15949317 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1263488842
rs1263488842
CFTR
1 1.000 0.120 7 117606669 coding sequence variant -/GTGGGATTCTTAATAG delins 7.0E-06 0.700 0
dbSNP: rs193922521
rs193922521
CFTR
1 1.000 0.120 7 117531003 inframe insertion -/TAT delins 0.700 0
dbSNP: rs397508686
rs397508686
CFTR
1 1.000 0.120 7 117531036 inframe insertion -/TAC delins 0.700 0
dbSNP: rs121908767
rs121908767
CFTR
2 0.925 0.160 7 117610593 inframe deletion ATAGTG/- delins 0.700 1.000 18 1994 2016
dbSNP: rs121908768
rs121908768
CFTR
2 0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05 0.700 1.000 14 1993 2016
dbSNP: rs113993960
rs113993960
CFTR ; CFTR-AS1
6 0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 0.700 1.000 12 1989 2014
dbSNP: rs121908777
rs121908777
CFTR
1 1.000 0.120 7 117591984 inframe deletion TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA/-;TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA delins 0.700 1.000 9 1992 2011
dbSNP: rs121908745
rs121908745
CFTR ; CFTR-AS1
2 0.925 0.160 7 117559587 inframe deletion ATC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1562914072
rs1562914072
CFTR
1 1.000 0.120 7 117610539 inframe deletion CTATAGCAG/- delins 0.700 0
dbSNP: rs387906371
rs387906371
CFTR
1 1.000 0.120 7 117531084 inframe deletion AATAGCTATGTTTAGTTT/- del 0.700 0
dbSNP: rs397508141
rs397508141
CFTR
1 1.000 0.120 7 117504297 inframe deletion TTGTCAGACATATACCAA/- delins 0.700 0
dbSNP: rs1562929636
rs1562929636
CFTR
1 1.000 0.120 7 117667065 stop lost TGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTGCT/- del 0.700 0
dbSNP: rs397508328
rs397508328
CFTR
1 1.000 0.120 7 117480095 start lost A/G snv 2.0E-05 0.700 1.000 8 1993 2014
dbSNP: rs397508476
rs397508476
CFTR
1 1.000 0.120 7 117480096 start lost T/A;C;G snv 8.0E-06 0.700 1.000 3 2005 2012
dbSNP: rs397508136
rs397508136
CFTR
1 1.000 0.120 7 117480082 start lost CGAGAGACCATGCAGAGGTCGCC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs397508657
rs397508657
CFTR
1 1.000 0.120 7 117480097 start lost G/A;T snv 0.700 0
dbSNP: rs377729736
rs377729736
CFTR
2 0.925 0.160 7 117531117 splice region variant A/G snv 2.5E-04 1.5E-04 0.700 1.000 16 2000 2018
dbSNP: rs74467662
rs74467662
CFTR
2 0.925 0.160 7 117509145 splice region variant A/C;G snv 4.0E-06 0.700 1.000 13 1997 2016
dbSNP: rs397508414
rs397508414
CFTR
1 1.000 0.120 7 117602865 splice region variant -/A ins 5.6E-05 9.1E-05 0.700 1.000 12 2000 2016
dbSNP: rs121908796
rs121908796
CFTR
2 0.925 0.160 7 117590444 splice region variant G/A;T snv 2.4E-05 0.700 1.000 10 1993 2016
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 1.000 6 2003 2014