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: rs75527207
rs75527207
CFTR
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.900 0.980 99 1990 2020
dbSNP: rs78655421
rs78655421
CFTR
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.900 0.985 66 1992 2019
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: 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: rs397508638
rs397508638
CFTR
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.100 0.875 16 1991 2019
dbSNP: rs75528968
rs75528968
CFTR
1 1.000 0.120 7 117540176 frameshift variant T/- delins 0.700 1.000 10 1992 2019
dbSNP: rs193922532
rs193922532
CFTR
2 0.925 0.160 7 117536629 stop gained C/G snv 7.0E-06 0.700 1.000 8 2000 2019
dbSNP: rs386134230
rs386134230
CFTR
2 0.925 0.160 7 117606674 missense variant G/A snv 1.2E-05 7.0E-06 0.710 1.000 8 1999 2019
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: 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: rs397508702
rs397508702
CFTR
1 1.000 0.120 7 117665556 stop gained C/T snv 4.0E-06 0.710 1.000 1 2019 2019
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: rs76879328
rs76879328
CFTR
1 1.000 0.120 7 117540305 missense variant C/A snv 0.710 1.000 21 1990 2018
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: rs377729736
rs377729736
CFTR
2 0.925 0.160 7 117531117 splice region variant A/G snv 2.5E-04 1.5E-04 0.700 1.000 16 2000 2018
dbSNP: rs144055758
rs144055758
CFTR
2 0.925 0.160 7 117610625 missense variant A/G snv 1.6E-05; 4.0E-06 0.700 1.000 15 1997 2018
dbSNP: rs397508453
rs397508453
CFTR
1 1.000 0.120 7 117603782 missense variant G/A;C snv 0.720 1.000 8 1993 2018
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2012 2018
dbSNP: rs1059057
rs1059057
SFTPA1
1 1.000 0.120 10 79613765 synonymous variant A/G snv 9.9E-02 6.4E-02 0.010 1.000 1 2018 2018
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: rs1124
rs1124
BMP1 ; SFTPC
3 0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1136451
rs1136451
SFTPA1
1 1.000 0.120 10 79612325 synonymous variant A/G snv 0.21 0.17 0.010 1.000 1 2018 2018
dbSNP: rs186089140
rs186089140
CFTR
2 0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs2077079
rs2077079
SFTPB
2 0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs3024798
rs3024798
SFTPB
1 1.000 0.120 2 85667185 splice region variant G/A;T snv 0.36 0.010 1.000 1 2018 2018