DisGeNET - a database of gene-disease associations

Source: INFERRED ×

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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 GENOME	Num. diseases
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv	7.0E-06	16
rs193922219	FBN1	0.763	0.280	15	48446701	splice region variant	C/A;T	snv		9
rs1555395001	FBN1	0.807	0.200	15	48434600	missense variant	A/G	snv		8