DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Mammary Neoplasms ×

Variants associated to the Gene: FGFR2 ×

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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
rs1057519854	FGFR2	0.882	0.080	10	121488063	missense variant	A/T	snv			7
rs121913476	FGFR2	0.851	0.080	10	121498520	missense variant	A/C;T	snv			7
rs1057519045	FGFR2	0.851	0.160	10	121498522	missense variant	T/G	snv			6
rs1057519901	FGFR2	0.925	0.080	10	121498525	missense variant	T/G	snv			5