DisGeNET - a database of gene-disease associations

Source: ALL

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
rs2118181	FBN1	0.851	0.040	15	48623687	intron variant	T/C	snv		0.23	6
rs1354738	FBN1	1.000	0.040	15	48591499	intron variant	T/C	snv		0.19	1
rs8026752	FBN1	1.000	0.040	15	48531573	intron variant	A/G	snv		0.18	1
rs8034829	FBN1	1.000	0.040	15	48513830	intron variant	T/C	snv		0.17	1
rs6493327	FBN1	1.000	0.040	15	48517231	intron variant	G/A	snv		0.17	1
rs16961065	FBN1	1.000	0.040	15	48514342	intron variant	C/T	snv		0.16	1
rs8030753	FBN1			15	48509738	intron variant	C/T	snv		0.15	1
rs686861	FBN1			15	48592808	intron variant	A/G	snv		9.1E-02	2
rs1678981	FBN1			15	48607900	intron variant	C/T	snv		7.7E-02	1
rs627634	FBN1			15	48587094	intron variant	C/T	snv		7.7E-02	1
rs595244	FBN1	0.882	0.080	15	48548638	intron variant	C/T	snv		7.7E-02	3
rs1036476	FBN1	1.000	0.040	15	48622578	intron variant	T/C	snv		7.5E-02	1
rs17361868	FBN1			15	48504949	intron variant	C/T	snv		4.7E-02	1
rs76610457	FBN1			15	48456447	intron variant	T/A	snv		1.3E-02	1
rs11856553	FBN1			15	48488010	intron variant	G/A	snv		4.3E-03	1
rs181681840	FBN1	1.000	0.160	15	48494269	intron variant	G/A;T	snv	7.7E-04; 2.0E-05	3.2E-03	1
rs137854475	FBN1	0.882	0.200	15	48487155	missense variant	C/T	snv	1.3E-03	1.6E-03	3
rs201309310	LOC105370809 ; FBN1	0.925	0.040	15	48644711	missense variant	T/C	snv	1.5E-04	1.5E-04	2
rs145942328	FBN1	1.000	0.160	15	48613072	missense variant	C/T	snv	5.6E-05	1.2E-04	1
rs564713154	FBN1	0.925	0.160	15	48489920	stop gained	C/A;T	snv	1.2E-05	5.6E-05	2
rs201778577	FBN1	1.000	0.160	15	48495574	stop gained	C/A;T	snv	3.2E-05	5.6E-05	1
rs149062442	FBN1	0.925	0.160	15	48415588	stop gained	C/A;T	snv	2.0E-05	5.6E-05	2
rs1156984408	FBN1	1.000		15	48481682	missense variant	C/T	snv	4.0E-06	2.1E-05	1
rs921420972	FBN1	1.000	0.040	15	48610824	missense variant	T/C	snv		2.1E-05	1
rs193922179	FBN1	1.000	0.160	15	48510124	missense variant	C/T	snv		1.4E-05	1