DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: MARFAN LIPODYSTROPHY SYNDROME ×

Variants associated to the Gene: FBN1 ×

Results per page

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
rs111401431	FBN1	0.763	0.200	15	48468097	missense variant	G/A	snv			2
rs137854480	FBN1	0.742	0.200	15	48537629	missense variant	G/A	snv			2
rs111984349	FBN1	0.763	0.200	15	48415759	missense variant	C/T	snv			1