DisGeNET - a database of gene-disease associations

List of shared variants

Marfan Syndrome, C0024796

Disease: Connective Tissue Diseases

Source: ALL

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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
rs137854468	FBN1	0.851	0.160	15	48487396	missense variant	C/T	snv			6
rs137854464	FBN1	0.851	0.200	15	48425483	missense variant	C/T	snv		7.0E-06	5