DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cleft upper lip ×

Variants associated to the Gene: FGFR1 ×

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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
rs397515445	FGFR1	0.807	0.280	8	38414263	missense variant	T/C	snv			7
rs13317	FGFR1	0.882	0.120	8	38411996	3 prime UTR variant	T/C	snv		0.23	3