Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80034486
rs80034486
CFTR
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.966 34 1990 2019
dbSNP: rs75527207
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.980 20 1990 2020
dbSNP: rs78655421
rs78655421
CFTR
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 0.985 14 1992 2019
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 0.979 34 1990 2016
dbSNP: rs121909011
rs121909011
CFTR
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.850 1.000 34 1990 2015
dbSNP: rs193922525
rs193922525
CFTR
1.000 0.120 7 117664770 missense variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 1.000 14 1995 2017
dbSNP: rs35516286
rs35516286
CFTR
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 1.000 14 2001 2017
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 1.000 14 1990 2015
dbSNP: rs121908755
rs121908755
CFTR
0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.830 0.978 34 1990 2016
dbSNP: rs121908758
rs121908758
CFTR
0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.830 1.000 34 1990 2015
dbSNP: rs75389940
rs75389940
CFTR
0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.830 1.000 14 2001 2017
dbSNP: rs121908751
rs121908751
CFTR
0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2015
dbSNP: rs121908803
rs121908803
CFTR
0.925 0.160 7 117535281 missense variant C/A;T snv 4.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2015
dbSNP: rs121909005
rs121909005
CFTR
0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2016
dbSNP: rs36210737
rs36210737
CFTR
0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2015
dbSNP: rs397508288
rs397508288
CFTR
0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2015
dbSNP: rs80055610
rs80055610
CFTR
0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 34 1990 2015
dbSNP: rs121908752
rs121908752
CFTR
0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 20 1990 2014
dbSNP: rs368505753
rs368505753
CFTR
0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 0.973 20 1990 2017
dbSNP: rs74503330
rs74503330
CFTR
0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.820 1.000 0 1992 2016
dbSNP: rs121909019
rs121909019
CFTR
0.925 0.160 7 117611638 missense variant G/A;T snv 3.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015
dbSNP: rs397508139
rs397508139
CFTR
0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015
dbSNP: rs397508276
rs397508276
CFTR
0.925 0.160 7 117590378 missense variant T/C;G snv 9.6E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015
dbSNP: rs397508316
rs397508316
CFTR
1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015
dbSNP: rs397508531
rs397508531
CFTR
1.000 0.120 7 117611733 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 1.000 34 1990 2015