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
rs137854480	FBN1	0.742	0.200	15	48537629	missense variant	G/A	snv			2
rs111401431	FBN1	0.763	0.200	15	48468097	missense variant	G/A	snv			2
rs111984349	FBN1	0.763	0.200	15	48415759	missense variant	C/T	snv			1
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv			1
rs137854467	FBN1	0.790	0.280	15	48600217	missense variant	G/A	snv			1
rs137854464	FBN1	0.851	0.200	15	48425483	missense variant	C/T	snv		7.0E-06	2
rs137854468	FBN1	0.851	0.160	15	48487396	missense variant	C/T	snv			1
rs137854478	FBN1	0.851	0.160	15	48488233	missense variant	C/T	snv			1
rs137854475	FBN1	0.882	0.200	15	48487155	missense variant	C/T	snv	1.3E-03	1.6E-03	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
rs112660651	FBN1	0.925	0.160	15	48610808	missense variant	C/A;G;T	snv			1
rs112728248	FBN1	0.925	0.160	15	48448812	missense variant	C/T	snv			1
rs112836174	FBN1	0.925	0.160	15	48430791	missense variant	A/G;T	snv			1
rs113544411	FBN1	0.925	0.160	15	48421652	stop gained	G/A;C;T	snv	1.2E-05		1
rs137854456	FBN1	0.925	0.160	15	48487365	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-05		1
rs137854457	FBN1	0.925	0.160	15	48428423	missense variant	C/G;T	snv			1
rs137854460	FBN1	0.925	0.160	15	48432943	missense variant	C/G;T	snv			1
rs137854465	FBN1	0.925	0.160	15	48488230	missense variant	A/G	snv			1
rs137854471	FBN1	0.925	0.160	15	48483931	missense variant	C/T	snv			1
rs137854472	FBN1	0.925	0.160	15	48488448	missense variant	T/C	snv	8.0E-06		1
rs137854477	FBN1	0.925	0.160	15	48489979	missense variant	C/T	snv			1
rs140592	FBN1	0.925	0.160	15	48489947	missense variant	A/G	snv		7.0E-06	1
rs140593	FBN1	0.925	0.160	15	48489896	missense variant	C/G;T	snv			1
rs140599	FBN1	0.925	0.160	15	48487317	missense variant	C/T	snv			1