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
rs121908758	CFTR	0.851	0.160	7	117590394	missense variant	C/A	snv	8.0E-06	7.0E-06	1
rs121909047	CFTR	0.925	0.160	7	117590355	missense variant	C/A	snv	1.2E-05	2.1E-05	1
rs397508480	CFTR	0.925	0.160	7	117610547	missense variant	C/A	snv	4.0E-06		1
rs397508700	CFTR	1.000	0.120	7	117531047	missense variant	C/A	snv		7.0E-06	1
rs76879328	CFTR	1.000	0.120	7	117540305	missense variant	C/A	snv			1
rs193922516	CFTR	1.000	0.120	7	117610568	missense variant	C/A;G;T	snv	3.2E-05; 4.0E-06; 3.2E-05		1
rs77834169	CFTR	0.851	0.160	7	117530974	missense variant	C/A;G;T	snv	8.0E-06; 2.0E-05; 2.0E-04		1
rs121908803	CFTR	0.925	0.160	7	117535281	missense variant	C/A;T	snv	4.0E-06	7.0E-06	1
rs1800100	CFTR	0.925	0.160	7	117592169	missense variant	C/A;T	snv	6.0E-03	6.1E-03	1
rs397508635	CFTR	0.925	0.160	7	117480132	missense variant	C/A;T	snv			1
rs74551128	CFTR-AS1 ; CFTR	0.807	0.160	7	117548795	missense variant	C/A;T	snv	5.3E-05; 5.7E-05		1
rs78194216	CFTR	0.925	0.160	7	117611637	missense variant	C/A;T	snv	3.2E-05		1
rs121909016	CFTR	1.000	0.120	7	117540163	missense variant	C/G	snv			1
rs80034486	CFTR	0.807	0.160	7	117652877	missense variant	C/G	snv	1.4E-04	1.6E-04	1
rs141033578	CFTR	0.925	0.160	7	117606695	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		1
rs145449046	CFTR	0.925	0.160	7	117592541	stop gained	C/G;T	snv	1.3E-04; 5.5E-06		1
rs115545701	CFTR	0.925	0.160	7	117509089	missense variant	C/T	snv	1.5E-03	4.3E-03	2
rs121909011	CFTR	0.807	0.160	7	117540230	missense variant	C/T	snv	5.6E-05	9.1E-05	2
rs121908802	CFTR	0.851	0.160	7	117535263	missense variant	C/T	snv		7.0E-06	1
rs121909017	CFTR ; CFTR-AS1	0.851	0.160	7	117559546	missense variant	C/T	snv	8.0E-06		1
rs121909035	CFTR	1.000	0.120	7	117603719	missense variant	C/T	snv	4.0E-06		1
rs143456784	CFTR	1.000	0.120	7	117504324	missense variant	C/T	snv	1.2E-04	7.7E-05	1
rs368505753	CFTR	0.925	0.160	7	117509069	missense variant	C/T	snv	3.6E-05	3.5E-05	1
rs77409459	CFTR	0.851	0.160	7	117540243	missense variant	C/T	snv	2.8E-05	1.4E-05	1
rs121908750	CFTR	1.000	0.120	7	117509140	missense variant	G/A	snv	4.0E-06		1