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: rs397508759
rs397508759
CFTR
4 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 0.800 1.000 38 1990 2015
dbSNP: rs121909017
rs121909017
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559546 missense variant C/T snv 8.0E-06 0.800 1.000 37 1990 2016
dbSNP: rs77409459
rs77409459
CFTR
4 0.851 0.160 7 117540243 missense variant C/T snv 2.8E-05 1.4E-05 0.800 1.000 37 1990 2015
dbSNP: rs77646904
rs77646904
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559629 missense variant G/A;T snv 1.5E-04; 4.0E-06 0.800 1.000 37 1990 2015
dbSNP: rs121908752
rs121908752
CFTR
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.820 1.000 33 1990 2014
dbSNP: rs79850223
rs79850223
CFTR
4 0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05 0.710 1.000 21 1992 2013
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.800 1.000 20 1990 2010
dbSNP: rs77284892
rs77284892
CFTR
4 0.851 0.160 7 117509047 stop gained G/A;T snv 2.4E-05 0.710 1.000 20 1992 2016
dbSNP: rs35516286
rs35516286
CFTR
4 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.840 1.000 18 2001 2017
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559509 missense variant G/A;T snv 0.810 1.000 18 1992 2015
dbSNP: rs80282562
rs80282562
CFTR
4 0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05 0.800 1.000 18 1997 2015
dbSNP: rs121908792
rs121908792
CFTR
4 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 0.700 1.000 14 1992 2013
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
dbSNP: rs75096551
rs75096551
CFTR
4 0.851 0.160 7 117606754 splice donor variant G/A;C;T snv 1.0E-04 2.9E-04 0.700 1.000 5 1990 2013
dbSNP: rs78756941
rs78756941
CFTR
4 0.851 0.160 7 117531115 splice donor variant G/T snv 7.7E-05 1.0E-04 0.700 1.000 5 1990 2013
dbSNP: rs78802634
rs78802634
CFTR
4 0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05 0.710 1.000 5 1992 2019
dbSNP: rs121908761
rs121908761
CFTR
4 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.710 1.000 4 1992 2013
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
5 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.710 1.000 4 2002 2012
dbSNP: rs75039782
rs75039782
CFTR
4 0.851 0.160 7 117639961 intron variant C/G;T snv 0.700 1.000 4 1994 2016
dbSNP: rs397508266
rs397508266
CFTR
4 0.851 0.160 7 117589467 intron variant A/G snv 2.8E-05 0.700 1.000 3 1995 2015
dbSNP: rs77101217
rs77101217
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559548 stop gained C/T snv 2.0E-05 7.0E-06 0.700 1.000 3 1990 2013
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.020 1.000 2 2016 2017
dbSNP: rs397508778
rs397508778
CFTR
4 0.851 0.160 7 117535326 stop gained C/T snv 4.0E-06 0.710 1.000 2 1994 2006
dbSNP: rs121908799
rs121908799
CFTR
4 0.851 0.160 7 117592218 frameshift variant AA/G delins 0.700 1.000 1 2013 2013
dbSNP: rs142920240
rs142920240
CFTR
5 0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05 0.010 1.000 1 2004 2004