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: 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: 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
dbSNP: rs35169799
rs35169799
PLCB3
5 0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs397508731
rs397508731
CFTR
1 1.000 0.120 7 117531109 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs4253527
rs4253527
SFTPA1
1 1.000 0.120 10 79614021 missense variant C/A;T snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs7316
rs7316
SFTPB
3 0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs75053309
rs75053309
CFTR
1 1.000 0.120 7 117540309 missense variant C/A;G;T snv 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs1057516619
rs1057516619
CFTR
1 1.000 0.120 7 117536669 stop gained A/T snv 0.710 < 0.001 1 2017 2017
dbSNP: rs1351058559
rs1351058559
CFTR
2 0.925 0.160 7 117540099 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs387906373
rs387906373
CFTR
1 1.000 0.120 7 117652846 frameshift variant ATTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs504348
rs504348
ABCC1 ; LOC107984869
1 1.000 0.120 16 15949317 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs749327704
rs749327704
DNAH8
1 1.000 0.120 6 38826351 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2227307
rs2227307
CXCL8
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.020 1.000 2 2016 2017
dbSNP: rs1554379887
rs1554379887
CFTR
1 1.000 0.120 7 117531094 frameshift variant TTAGTTTGATTTAT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1800080
rs1800080
CFTR
2 0.925 0.120 7 117534330 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016