DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Mammary Neoplasms ×

Variants associated to the Gene: SMAD4 ×

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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
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			13
rs80338963	SMAD4	0.776	0.280	18	51065548	missense variant	C/A;G;T	snv			11