DisGeNET - a database of gene-disease associations

List of associated variants

GELEOPHYSIC DYSPLASIA 2, C3280054

Source: ALL

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
rs137854480	FBN1	0.742	0.200	15	48537629	missense variant	G/A	snv			11
rs1555400373	FBN1	0.763	0.200	15	48515393	missense variant	A/G	snv			9
rs397515757	FBN1	0.752	0.200	15	48515382	splice region variant	C/T	snv			10
rs730880099	FBN1	0.742	0.200	15	48510125	missense variant	G/A	snv			11
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs193922185	FBN1	0.752	0.200	15	48505037	missense variant	G/A	snv			10
rs1566911957	FBN1	0.776	0.200	15	48496204	frameshift variant	GTACACATTCA/-	delins			8
rs140583	FBN1	0.763	0.200	15	48495219	stop gained	G/A	snv			9
rs794728195	FBN1	0.752	0.200	15	48495155	missense variant	G/A	snv			10
rs794728208	FBN1	0.776	0.200	15	48485374	missense variant	C/T	snv			8
rs1555397718	FBN1	0.776	0.200	15	48474566	missense variant	C/A;T	snv			8
rs1555397413	FBN1	0.732	0.280	15	48470705	missense variant	T/C	snv			13
rs193922204	FBN1	0.763	0.200	15	48468542	splice region variant	C/T	snv	4.0E-06	7.0E-06	9
rs111401431	FBN1	0.763	0.200	15	48468097	missense variant	G/A	snv			9
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs387906625	FBN1	1.000		15	48463219	missense variant	T/C	snv			1
rs387906622	FBN1	0.925	0.080	15	48463210	missense variant	T/C	snv			2
rs387906624	FBN1	0.925	0.080	15	48463124	missense variant	C/T	snv			2
rs1566902569	FBN1	0.882	0.160	15	48460299	missense variant	C/A	snv			9
rs387906623	FBN1	0.882	0.120	15	48460258	missense variant	C/T	snv			4
rs1566899590	FBN1	0.776	0.200	15	48448894	splice acceptor variant	C/T	snv			8
rs71467648	FBN1	0.776	0.200	15	48437898	stop gained	A/C;T	snv			8
rs794728334	FBN1	0.763	0.200	15	48437069	stop gained	C/A;T	snv			9
rs113543334	FBN1	0.763	0.200	15	48432944	missense variant	A/G	snv			9
rs193922228	FBN1	0.763	0.200	15	48430736	missense variant	A/G	snv		7.0E-06	9