DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Dysmorphic features ×

Variants associated to the Gene: ACTB ×

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
rs104894003	ACTB	0.827	0.320	7	5528536	missense variant	G/A	snv			3
rs769182426	ACTB	1.000		7	5528100	missense variant	G/A;C	snv	8.0E-06		2
rs1554329552	ACTB	1.000		7	5529265	missense variant	G/C	snv			1
rs797044950	ACTB	1.000		7	5528546	missense variant	G/A;C	snv			1