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: rs35772018
rs35772018
DCTN4
2 0.925 0.160 5 150730677 missense variant T/C snv 1.3E-02 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs397508498
rs397508498
CFTR
2 0.925 0.160 7 117610637 missense variant C/A;T snv 4.0E-06 1.4E-05 0.710 1.000 1 2016 2016
dbSNP: rs397508661
rs397508661
CFTR
1 1.000 0.120 7 117664748 frameshift variant G/-;GGGGG delins 0.700 1.000 1 2016 2016
dbSNP: rs397508786
rs397508786
CFTR
1 1.000 0.120 7 117535381 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs5736
rs5736
SCNN1G
1 1.000 0.120 16 23189600 missense variant G/A snv 4.1E-03 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs984281283
rs984281283
CFTR
1 1.000 0.120 7 117592562 stop gained C/A;T snv 1.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057516232
rs1057516232
CFTR
1 1.000 0.120 7 117504255 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1078761
rs1078761
BPIFB1
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs117230773
rs117230773
HLA-DRB9
1 1.000 0.120 6 32465964 intron variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1554388867
rs1554388867
CFTR
1 1.000 0.120 7 117589470 intron variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs2688482
rs2688482
MUC4
1 1.000 0.120 3 195802247 intron variant T/C snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs3103933
rs3103933
MUC4
1 1.000 0.120 3 195758569 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs397508165
rs397508165
CFTR ; CFTR-AS1
1 1.000 0.120 7 117542034 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs397508198
rs397508198
CFTR ; CFTR-AS1
1 1.000 0.120 7 117548823 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs397508734
rs397508734
CFTR
2 0.925 0.160 7 117534275 splice acceptor variant G/A;T snv 1.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs546131
rs546131
LOC102723568
1 1.000 0.120 11 34830213 regulatory region variant G/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs56302516
rs56302516
SLC9A3
1 1.000 0.120 5 518319 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs57221529
rs57221529 		1 1.000 0.120 5 586509 regulatory region variant A/G snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs5952223
rs5952223 		1 1.000 0.120 X 116255308 intergenic variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs773739166
rs773739166
CFTR
1 1.000 0.120 7 117509142 splice region variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs779426136
rs779426136
ABCA4
2 0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7817
rs7817
IFRD1
2 0.925 0.200 7 112475603 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7879546
rs7879546 		1 1.000 0.120 X 116217020 intergenic variant T/C snv 0.700 1.000 1 2015 2015