DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Marfan Syndrome ×

Variants associated to the Gene: FBN1 ×

Results per page

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
rs730880097	FBN1 ; LOC105370809	0.925	0.160	15	48644769	start lost	T/A;C;G	snv			2
rs886041536	FBN1 ; LOC105370809	1.000	0.160	15	48644768	start lost	A/C;G	snv			1
rs886039072	FBN1 ; LOC105370809	0.925	0.160	15	48644767	start lost	C/A;T	snv			2
rs397515785	LOC105370809 ; FBN1	1.000	0.160	15	48644728	frameshift variant	TAAATCCCAGG/-	delins			1
rs1555407423	FBN1 ; LOC105370809	1.000	0.160	15	48644718	frameshift variant	C/-	del			1
rs193922218	LOC105370809 ; FBN1	1.000	0.160	15	48644714	missense variant	G/A	snv			1
rs1555407414	FBN1 ; LOC105370809	1.000	0.160	15	48644646	frameshift variant	C/-	delins			1
rs1566944839	FBN1 ; LOC105370809	0.925	0.160	15	48644644	frameshift variant	G/-	delins			2
rs1555407399	FBN1 ; LOC105370809	1.000	0.160	15	48644605	frameshift variant	C/-	delins			1
rs794728213	FBN1 ; LOC105370809	1.000	0.160	15	48644605	splice donor variant	C/A;T	snv			1
rs727503058	FBN1 ; LOC105370809	1.000	0.160	15	48644604	splice donor variant	A/G;T	snv			1
rs1555405673	FBN1	1.000	0.160	15	48613081	missense variant	C/A;T	snv			1
rs25403	FBN1	0.882	0.200	15	48613073	missense variant	G/A	snv			3
rs145942328	FBN1	1.000	0.160	15	48613072	missense variant	C/T	snv	5.6E-05	1.2E-04	1
rs1303389437	FBN1	1.000	0.160	15	48613069	missense variant	T/C	snv	4.0E-06		1
rs774371494	FBN1	1.000	0.160	15	48613060	missense variant	T/A;C	snv	4.0E-06		1
rs1555405664	FBN1	1.000	0.160	15	48613053	inframe insertion	-/ACA	delins			1
rs1555405658	FBN1	1.000	0.160	15	48613046	missense variant	A/G;T	snv			1
rs111764111	FBN1	1.000	0.160	15	48613019	missense variant	A/C;G	snv			1
rs397515767	FBN1	1.000	0.160	15	48613018	missense variant	C/T	snv			1
rs25404	FBN1	0.925	0.160	15	48613009	splice donor variant	C/A;T	snv			2
rs201854371	FBN1	0.925	0.160	15	48613007	splice region variant	T/C;G	snv	8.0E-06		2
rs1555405537	FBN1	1.000	0.160	15	48610829	splice region variant	G/C	snv			1
rs1555405536	FBN1	1.000	0.160	15	48610819	stop gained	G/T	snv			1
rs1555405533	FBN1	1.000	0.160	15	48610809	missense variant	A/G	snv			1