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: rs74551128
rs74551128
CFTR ; CFTR-AS1
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.030 1.000 3 1992 1998
dbSNP: rs121909011
rs121909011
CFTR
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.020 1.000 2 1992 1995
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1992 1996
dbSNP: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.020 1.000 2 1992 1992
dbSNP: rs77932196
rs77932196
CFTR
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.020 1.000 2 1992 1995
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2012 2012
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2004 2004
dbSNP: rs121908758
rs121908758
CFTR
4 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 1992 1992
dbSNP: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs17107315
rs17107315
SPINK1
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs17235416
rs17235416
SLC11A1
6 0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs17563161
rs17563161
SLC9A3
4 0.882 0.040 5 497509 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs35516286
rs35516286
CFTR
4 0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03 0.010 1.000 1 1992 1992
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 1.000 1 2004 2004
dbSNP: rs75389940
rs75389940
CFTR
3 0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs75541969
rs75541969
CFTR
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs77101217
rs77101217
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559548 stop gained C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 1992 1992
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 0.010 1.000 1 1992 1992
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 1992 1992
dbSNP: rs79282516
rs79282516
CFTR ; CFTR-AS1
4 0.851 0.160 7 117559509 missense variant G/A;T snv 0.010 1.000 1 1992 1992
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs80055610
rs80055610
CFTR
4 0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 1992 1992