DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×

Variants associated to the Gene: BEST1 ×

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
rs1484152128	LOC107984334 ; BEST1	1.000	0.080	11	61956934	missense variant	T/C	snv	4.0E-06		1
rs1565392261	LOC107984334 ; BEST1	1.000	0.080	11	61957445	missense variant	T/G	snv			1
rs1554963305	LOC107984334 ; FTH1 ; BEST1	1.000	0.080	11	61959899	missense variant	T/C	snv			1