DisGeNET - a database of gene-disease associations

List of shared variants

Arachnodactyly, C0003706

Disease: Aneurysm of aortic root

Source: ALL

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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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs1085308004	FBN1	0.807	0.240	15	48425420	missense variant	A/G	snv			9
rs193922219	FBN1	0.763	0.280	15	48446701	splice region variant	C/A;T	snv			9