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: rs397508267
rs397508267
CFTR
1.000 0.120 7 117590353 missense variant A/C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909037
rs121909037
CFTR
1.000 0.120 7 117611653 missense variant A/C;G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs397508464
rs397508464
CFTR
0.851 0.160 7 117530918 missense variant A/C;G snv 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs79635528
rs79635528
CFTR
1.000 0.120 7 117611695 missense variant A/C;G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 14 1993 2015
dbSNP: rs397508314
rs397508314
CFTR
1.000 0.120 7 117592026 missense variant A/C;G;T snv 8.6E-06; 4.3E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs76371115
rs76371115
CFTR
0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909042
rs121909042
CFTR
1.000 0.120 7 117652875 missense variant A/C;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909008
rs121909008
CFTR
0.925 0.160 7 117603612 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs121909031
rs121909031
CFTR
1.000 0.120 7 117530951 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs150691494
rs150691494
CFTR
1.000 0.120 7 117540132 missense variant A/G snv 2.9E-04 1.8E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs201124247
rs201124247
CFTR
0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2016
dbSNP: rs397508277
rs397508277
CFTR
1.000 0.120 7 117590379 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs397508428
rs397508428
CFTR
1.000 0.120 7 117603624 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs397508553
rs397508553
CFTR
1.000 0.120 7 117614654 missense variant A/G snv 3.6E-05 4.9E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs397508621
rs397508621
CFTR
1.000 0.120 7 117642592 missense variant A/G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 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: rs397508306
rs397508306
CFTR
1.000 0.120 7 117591968 missense variant A/G;T snv 4.3E-06; 4.3E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs1800074
rs1800074
CFTR
1.000 0.120 7 117504330 missense variant A/G;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 14 2001 2015
dbSNP: rs121909033
rs121909033
CFTR
1.000 0.120 7 117592110 missense variant A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs397508804
rs397508804
CFTR
1.000 0.120 7 117536663 missense variant A/T snv 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015
dbSNP: rs1177201180
rs1177201180
CFTR
1.000 0.120 7 117592160 missense variant A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 0
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: rs397508480
rs397508480
CFTR
0.925 0.160 7 117610547 missense variant C/A snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 1.000 34 1990 2015
dbSNP: rs397508700
rs397508700
CFTR
1.000 0.120 7 117531047 missense variant C/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 1.000 34 1990 2015