DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neoplastic Syndromes, Hereditary ×

Variants associated to the Gene: SMARCA4 ×

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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
rs1555771571	SMARCA4	1.000	0.040	19	11007932	stop gained	C/T	snv			2
rs1555787120	SMARCA4	1.000	0.040	19	11039467	frameshift variant	GG/C	delins			2
rs972341316	SMARCA4	1.000	0.040	19	10989339	stop gained	C/T	snv			2
rs1555763642	SMARCA4			19	10996285	stop gained	C/G;T	snv			1