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: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.800 1.000 17 1991 2018
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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
IL1B
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs115545701
rs115545701
CFTR
2 0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03 0.710 1.000 1 2010 2010
dbSNP: rs117230773
rs117230773
HLA-DRB9
1 1.000 0.120 6 32465964 intron variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1177201180
rs1177201180
CFTR
1 1.000 0.120 7 117592160 missense variant A/T snv 0.700 0
dbSNP: rs11971167
rs11971167
CFTR
3 0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03 0.730 0.941 17 2001 2017
dbSNP: rs1199914684
rs1199914684
CFTR
1 1.000 0.120 7 117536639 stop gained G/T snv 0.700 0
dbSNP: rs1204521684
rs1204521684
CFTR
1 1.000 0.120 7 117540180 missense variant T/A;C;G snv 4.0E-06 0.700 0
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: rs121908746
rs121908746
CFTR
2 0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins 7.7E-05 0.700 1.000 5 1993 2013
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 1.000 3 1993 2014
dbSNP: rs121908749
rs121908749
CFTR
2 0.925 0.160 7 117509092 stop gained C/T snv 2.4E-05 7.0E-06 0.700 1.000 6 1994 2013
dbSNP: rs121908750
rs121908750
CFTR
1 1.000 0.120 7 117509140 missense variant G/A snv 4.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.820 1.000 41 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: 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: rs121908754
rs121908754
CFTR ; CFTR-AS1
1 1.000 0.120 7 117559643 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.830 0.978 46 1990 2016
dbSNP: rs121908757
rs121908757
CFTR
3 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.720 1.000 8 1991 2016
dbSNP: rs121908758
rs121908758
CFTR
4 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.830 1.000 43 1990 2015
dbSNP: rs121908759
rs121908759
CFTR
5 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.710 1.000 3 2008 2015
dbSNP: rs121908760
rs121908760
CFTR
2 0.925 0.160 7 117592292 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 3 1997 2013
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