DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Marfan Syndrome ×

Variants associated to the Gene: FBN1 ×

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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
rs137854478	FBN1	0.851	0.160	15	48488233	missense variant	C/T	snv			1
rs137854482	FBN1	1.000	0.160	15	48487389	missense variant	C/T	snv			1
rs140599	FBN1	0.925	0.160	15	48487317	missense variant	C/T	snv			1
rs363804	FBN1	1.000	0.160	15	48441771	missense variant	C/T	snv		7.0E-06	1
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
rs137854467	FBN1	0.790	0.280	15	48600217	missense variant	G/A	snv			1
rs25403	FBN1	0.882	0.200	15	48613073	missense variant	G/A	snv			1
rs112375043	FBN1	0.925	0.160	15	48472594	stop gained	G/A;C;T	snv	3.6E-05	1.4E-05	1
rs113544411	FBN1	0.925	0.160	15	48421652	stop gained	G/A;C;T	snv	1.2E-05		1
rs140603	FBN1	0.925	0.160	15	48503845	stop gained	G/A;C;T	snv	7.6E-04		1
rs137854462	FBN1	1.000	0.160	15	48510115	missense variant	T/A	snv			1
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			1
rs137854472	FBN1	0.925	0.160	15	48488448	missense variant	T/C	snv	8.0E-06		1
rs137854463	FBN1	1.000	0.160	15	48497391	missense variant	T/G	snv			1