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
rs1036477	FBN1	0.882	0.040	15	48622729	intron variant	A/G	snv		0.24	5
rs4774517	FBN1	0.882	0.040	15	48467094	intron variant	G/T	snv		0.34	3
rs595244	FBN1	0.882	0.080	15	48548638	intron variant	C/T	snv		7.7E-02	3
rs10519177	FBN1	0.925	0.040	15	48464998	intron variant	A/G	snv		0.35	2
rs1060501029	FBN1	0.925	0.160	15	48446909	intron variant	T/C	snv			2
rs11635140	FBN1	1.000	0.040	15	48490366	intron variant	T/A;C	snv			2
rs2247876	FBN1	1.000	0.040	15	48639254	intron variant	T/A;C	snv			2
rs4775769	LOC105370809 ; FBN1			15	48647691	intron variant	T/G	snv		0.93	2
rs6493333	LOC105370809 ; FBN1	0.925	0.040	15	48646849	intron variant	T/A;C	snv			2
rs686861	FBN1			15	48592808	intron variant	A/G	snv		9.1E-02	2
rs755251	FBN1	0.925	0.040	15	48519823	intron variant	A/G;T	snv			2
rs1018148	FBN1			15	48610929	intron variant	A/G;T	snv			1
rs1036476	FBN1	1.000	0.040	15	48622578	intron variant	T/C	snv		7.5E-02	1
rs11634866	FBN1	1.000	0.040	15	48482091	intron variant	A/C;G	snv			1
rs11856553	FBN1			15	48488010	intron variant	G/A	snv		4.3E-03	1
rs12916536	FBN1	1.000	0.160	15	48414374	intron variant	A/G;T	snv			1
rs1354738	FBN1	1.000	0.040	15	48591499	intron variant	T/C	snv		0.19	1
rs140605	FBN1	1.000	0.040	15	48497437	intron variant	T/C	snv	0.28	0.35	1
rs1566915335	FBN1	1.000	0.160	15	48510183	intron variant	T/C	snv			1
rs1678981	FBN1			15	48607900	intron variant	C/T	snv		7.7E-02	1
rs1678983	FBN1	1.000	0.040	15	48638448	intron variant	T/C	snv		0.24	1
rs16960901	FBN1	1.000	0.040	15	48413009	intron variant	T/C	snv		0.65	1
rs16961065	FBN1	1.000	0.040	15	48514342	intron variant	C/T	snv		0.16	1
rs17361868	FBN1			15	48504949	intron variant	C/T	snv		4.7E-02	1