DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Cystic Fibrosis ×

Variants associated to the Gene: CFTR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121908753	CFTR	0.851	0.160	7	117540285	missense variant	G/A	snv	2.4E-05		1
rs121908759	CFTR	0.827	0.160	7	117592032	missense variant	G/A	snv	1.0E-04	3.8E-04	1
rs121909013	CFTR	1.000	0.120	7	117587805	missense variant	G/A	snv	4.0E-06		1
rs121909040	CFTR	1.000	0.120	7	117642466	missense variant	G/A	snv		7.0E-06	1
rs143486492	CFTR	1.000	0.120	7	117540120	missense variant	G/A	snv	5.7E-04	5.7E-04	1
rs193922506	CFTR	1.000	0.120	7	117595036	missense variant	G/A	snv	4.8E-05	4.9E-05	1
rs193922525	CFTR	1.000	0.120	7	117664770	missense variant	G/A	snv			1
rs200321110	CFTR	0.925	0.160	7	117611646	missense variant	G/A	snv	2.6E-04	2.4E-04	1
rs201978662	CFTR	1.000	0.120	7	117592004	missense variant	G/A	snv		7.0E-06	1
rs397508282	CFTR	1.000	0.120	7	117590387	missense variant	G/A	snv			1
rs397508817	CFTR	1.000	0.120	7	117540150	missense variant	G/A	snv			1
rs74503330	CFTR	0.925	0.160	7	117642472	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	1
rs780526529	CFTR	1.000	0.120	7	117592118	missense variant	G/A	snv	3.2E-05		1
rs80282562	CFTR	0.851	0.160	7	117534318	missense variant	G/A	snv	1.6E-05		1
rs151048781	CFTR	0.925	0.160	7	117603730	missense variant	G/A;C	snv	5.6E-05; 8.0E-05		2
rs1800097	CFTR	0.925	0.160	7	117590357	missense variant	G/A;C	snv	1.4E-04; 4.8E-05		2
rs121909020	CFTR	1.000	0.120	7	117611640	missense variant	G/A;C	snv	4.0E-06		1
rs121909044	CFTR	0.925	0.200	7	117587812	missense variant	G/A;C	snv	4.0E-06		1
rs397508316	CFTR	1.000	0.120	7	117592049	missense variant	G/A;C	snv	4.1E-06		1
rs78769542	CFTR	0.925	0.160	7	117611650	missense variant	G/A;C	snv	6.1E-04		1
rs80055610	CFTR	0.851	0.160	7	117587833	missense variant	G/A;C	snv	2.4E-05		1
rs113993958	CFTR	0.882	0.200	7	117530953	missense variant	G/A;C;T	snv	2.0E-05; 4.0E-06		2
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		2
rs201958172	CFTR	1.000	0.120	7	117530983	missense variant	G/A;C;T	snv	1.4E-04; 4.0E-06		1