DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Familial thoracic aortic aneurysm and aortic dissection ×

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
rs1555398673	FBN1	0.807	0.200	15	48488433	missense variant	A/G	snv			7
rs1057518881	FBN1	0.827	0.200	15	48513656	missense variant	C/A;G;T	snv			6
rs137854468	FBN1	0.851	0.160	15	48487396	missense variant	C/T	snv			6
rs113001196	FBN1	0.882	0.160	15	48432947	stop gained	G/A	snv			5
rs137854464	FBN1	0.851	0.200	15	48425483	missense variant	C/T	snv		7.0E-06	5
rs137854478	FBN1	0.851	0.160	15	48488233	missense variant	C/T	snv			4
rs397514558	FBN1	0.851	0.200	15	48490013	missense variant	G/A	snv		7.0E-06	4
rs794728228	FBN1	0.925	0.160	15	48468064	stop gained	G/A	snv			4
rs794728319	FBN1	0.851	0.160	15	48427731	frameshift variant	AT/-	del			4
rs137854481	FBN1	0.882	0.160	15	48488481	missense variant	C/T	snv			3
rs147195031	FBN1	0.882	0.160	15	48420780	missense variant	G/A	snv			3
rs1555395209	FBN1	0.882	0.160	15	48437054	frameshift variant	-/G	delins			3
rs1555395742	FBN1	0.882	0.160	15	48445370	splice region variant	A/G	snv			3
rs1555396638	FBN1	0.882	0.160	15	48460305	frameshift variant	-/TA	delins			3
rs193922198	FBN1	0.882	0.160	15	48488383	frameshift variant	C/-	del			3
rs25403	FBN1	0.882	0.200	15	48613073	missense variant	G/A	snv			3
rs267606800	FBN1	0.882	0.160	15	48467994	missense variant	C/G;T	snv			3
rs397515808	FBN1	0.882	0.160	15	48470687	missense variant	C/A;G;T	snv	1.6E-05		3
rs398122833	FBN1	0.882	0.160	15	48412568	splice donor variant	C/A;T	snv			3
rs794728165	FBN1	0.882	0.160	15	48520716	stop gained	G/A	snv			3
rs794728190	FBN1	0.882	0.160	15	48496213	missense variant	C/A;T	snv			3
rs794728199	FBN1	0.882	0.200	15	48489980	missense variant	C/A;T	snv			3
rs1052480459	FBN1	0.925	0.160	15	48437837	stop gained	C/A;G	snv		7.0E-06	2
rs1057521102	FBN1	0.925	0.160	15	48510088	missense variant	C/A;T	snv			2
rs1057523406	FBN1	0.925	0.160	15	48494209	missense variant	C/A;G;T	snv			2