DisGeNET - a database of gene-disease associations

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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
rs1566911709	FBN1	0.742	0.240	15	48495502	frameshift variant	T/-	delins		15
rs113422242	FBN1	0.763	0.240	15	48510065	stop gained	G/A	snv	7.0E-06	14
rs397515804	FBN1	0.776	0.200	15	48472628	missense variant	C/A;T	snv		11