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: 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: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.710 1.000 1 1998 1998
dbSNP: rs74597325
rs74597325
CFTR
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 14 1993 2014
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.080 1.000 8 1998 2018
dbSNP: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.700 0
dbSNP: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.710 1.000 1 2011 2011
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs77932196
rs77932196
CFTR
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.700 0
dbSNP: rs121909011
rs121909011
CFTR
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.800 1.000 6 1995 2007
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.020 1.000 2 2007 2011
dbSNP: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.720 1.000 2 2007 2011
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 0.710 1.000 1 1998 1998
dbSNP: rs121908759
rs121908759
CFTR
5 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.800 1.000 6 1995 2007
dbSNP: rs75541969
rs75541969
CFTR
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.700 1.000 6 1995 2007
dbSNP: rs113993960
rs113993960
CFTR ; CFTR-AS1
6 0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03 0.700 0
dbSNP: rs267606723
rs267606723
CFTR
5 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs121908752
rs121908752
CFTR
4 0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04 0.800 1.000 6 1995 2007
dbSNP: rs397508759
rs397508759
CFTR
4 0.851 0.160 7 117534363 stop gained G/A;T snv 4.0E-06 0.800 1.000 6 1995 2007
dbSNP: rs121908753
rs121908753
CFTR
4 0.851 0.160 7 117540285 missense variant G/A snv 2.4E-05 0.700 0
dbSNP: rs121908758
rs121908758
CFTR
4 0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121908761
rs121908761
CFTR
4 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.700 0
dbSNP: rs121908792
rs121908792
CFTR
4 0.851 0.160 7 117530898 splice acceptor variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs121908799
rs121908799
CFTR
4 0.851 0.160 7 117592218 frameshift variant AA/G delins 0.700 0