DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: FBN1 ×

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Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs4775769	LOC105370809 ; FBN1		15	48647691	intron variant	T/G	snv		0.93	2
rs686861	FBN1		15	48592808	intron variant	A/G	snv		9.1E-02	2
rs1018148	FBN1		15	48610929	intron variant	A/G;T	snv			1
rs1156984408	FBN1	1.000	15	48481682	missense variant	C/T	snv	4.0E-06	2.1E-05	1
rs11856553	FBN1		15	48488010	intron variant	G/A	snv		4.3E-03	1
rs1555393647	FBN1	1.000	15	48412588	frameshift variant	-/T	delins			1
rs1555398830	FBN1	1.000	15	48490037	stop gained	C/A	snv			1
rs1555401011	FBN1	1.000	15	48526207	missense variant	C/T	snv			1
rs1566888718	FBN1	1.000	15	48411315	frameshift variant	GATGGCTGTCTTCTCAA/-	delins			1
rs1566891701	FBN1	1.000	15	48421675	missense variant	A/G	snv			1
rs1566892872	FBN1	1.000	15	48425770	stop gained	G/C	snv			1
rs1566898120	FBN1	1.000	15	48444614	frameshift variant	G/-	delins			1
rs1566900492	FBN1	1.000	15	48452602	frameshift variant	CA/-	delins			1
rs1566900540	FBN1	1.000	15	48452686	splice acceptor variant	T/C	snv			1
rs1566903914	FBN1	1.000	15	48465582	frameshift variant	-/T	delins			1
rs1566904526	FBN1	1.000	15	48467985	frameshift variant	C/-	delins			1
rs1566919637	FBN1	1.000	15	48526168	frameshift variant	G/-	delins			1
rs1566938153	FBN1	1.000	15	48613020	frameshift variant	-/T	delins			1
rs1678981	FBN1		15	48607900	intron variant	C/T	snv		7.7E-02	1
rs17361868	FBN1		15	48504949	intron variant	C/T	snv		4.7E-02	1
rs387906625	FBN1	1.000	15	48463219	missense variant	T/C	snv			1
rs398122831	FBN1	1.000	15	48412639	frameshift variant	TT/-	del			1
rs398122832	FBN1	1.000	15	48412620	frameshift variant	TTGGGGTAGCCATTGATCTT/-	delins			1
rs545317462	FBN1		15	48530561	intron variant	TT/-;T;TTT;TTTT;TTTTT	delins			1
rs627634	FBN1		15	48587094	intron variant	C/T	snv		7.7E-02	1