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: rs747607158
rs747607158
CFI
1 1.000 0.120 4 109740999 missense variant T/C snv 0.010 < 0.001 1 1991 1991
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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2011 2012
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: 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: rs886043448
rs886043448
DNAH5
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.720 1.000 2 2003 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 1998 2003
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: 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: rs9268905
rs9268905
HLA-DRB9
2 0.925 0.280 6 32464300 intron variant G/C snv 0.29 0.700 1.000 1 2011 2011
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: rs75549581
rs75549581
CFTR
2 0.925 0.160 7 117587829 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.810 1.000 53 1990 2015
dbSNP: rs201124247
rs201124247
CFTR
3 0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05 0.800 1.000 51 1990 2016
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: 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: rs121908755
rs121908755
CFTR
3 0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05 0.830 0.978 46 1990 2016
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: rs397508479
rs397508479
CFTR
1 1.000 0.120 7 117610544 missense variant T/G snv 4.0E-06 0.800 1.000 42 1990 2015
dbSNP: rs121908751
rs121908751
CFTR
2 0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06 0.820 1.000 41 1990 2015