DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY ×

Variants associated to the Gene: TIMP3 ×

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
rs137853298	SYN3 ; TIMP3	0.925	0.080	22	32859351	missense variant	A/T	snv			1
rs137853299	SYN3 ; TIMP3	1.000	0.040	22	32859313	missense variant	A/G	snv			1
rs137853300	TIMP3 ; SYN3	1.000	0.040	22	32859277	missense variant	C/G	snv			1
rs137853301	TIMP3 ; SYN3	1.000	0.040	22	32859306	missense variant	G/T	snv			1