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: rs77010898
rs77010898
CFTR
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.800 1.000 17 1989 2019
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs721917
rs721917
SFTPD
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2010 2010
dbSNP: rs5030737
rs5030737
MBL2
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.700 0
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.810 1.000 36 1990 2015
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 1991 2011
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 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 0.840 1.000 28 1990 2015
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: rs80034486
rs80034486
CFTR
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.900 0.966 59 1990 2019
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 0.880 0.979 48 1990 2016
dbSNP: rs121909011
rs121909011
CFTR
6 0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05 0.850 1.000 41 1990 2015
dbSNP: rs76371115
rs76371115
CFTR
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.800 1.000 34 1990 2015
dbSNP: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.100 0.875 16 1991 2019
dbSNP: rs75541969
rs75541969
CFTR
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.730 1.000 37 1990 2015
dbSNP: rs267606723
rs267606723
CFTR
5 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.810 1.000 26 1991 2015
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: 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: rs397508464
rs397508464
CFTR
4 0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06 0.800 1.000 47 1990 2015
dbSNP: rs77834169
rs77834169
CFTR
4 0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04 0.800 1.000 45 1990 2015
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: rs121908802
rs121908802
CFTR
4 0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06 0.800 1.000 42 1990 2016
dbSNP: rs121909005
rs121909005
CFTR
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.820 1.000 40 1990 2016
dbSNP: rs80055610
rs80055610
CFTR
4 0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05 0.820 1.000 40 1990 2015