DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Age related macular degeneration ×

Variants associated to the Gene: CFB ×

Results per page

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
rs541862	CFB ; CYP21A2	0.882	0.160	6	31949174	non coding transcript exon variant	T/C	snv		0.12	2
rs2072633	CFB ; CYP21A2 ; NELFE	0.807	0.320	6	31951801	3 prime UTR variant	A/G	snv		0.59	2
rs522162	CYP21A2 ; CFB ; NELFE	0.925	0.160	6	31952140	3 prime UTR variant	T/C	snv		0.12	2
rs641153	CFB ; CYP21A2	0.790	0.160	6	31946403	missense variant	G/A;T	snv	9.6E-02; 4.1E-06		1
rs12614	CYP21A2 ; CFB	0.851	0.160	6	31946402	missense variant	C/G;T	snv	4.1E-06; 0.12		1
rs760070	CYP21A2 ; CFB ; NELFE	0.882	0.280	6	31952179	3 prime UTR variant	T/C	snv		0.12	1