DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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 GENOME	Num. diseases
rs1242465339	UQCRFS1	1.000	0.080	19	29207763	stop gained	G/A;T	snv	7.0E-06	3
rs1568344751	UQCRFS1	1.000	0.080	19	29208159	splice acceptor variant	C/G	snv		3
rs1568346416	UQCRFS1 ; LOC105372352	1.000	0.080	19	29213078	missense variant	A/T	snv		3