DisGeNET - a database of gene-disease associations

List of associated variants

Aneurysm of aortic root, C1298820

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
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs113812345	FBN1	0.790	0.160	15	48513591	stop gained	G/A	snv			10
rs1555398397	FBN1	0.807	0.240	15	48485436	missense variant	C/T	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
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs1057518883	FBN1	0.851	0.240	15	48415571	missense variant	A/C	snv			7
rs1057518938	NDE1 ; MYH11	0.882	0.080	16	15724166	missense variant	C/G	snv			5