DisGeNET - a database of gene-disease associations

List of associated variants

Familial thoracic aortic aneurysm and aortic dissection, C4707243

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
rs1015798796	SLC2A10	0.882	0.160	20	46725684	stop gained	C/G	snv		1.4E-05	3
rs104893807	TGFBR2	0.925	0.120	3	30674196	missense variant	C/G;T	snv			2
rs104893809	TGFBR2	0.882	0.120	3	30691504	missense variant	C/T	snv			3
rs104893810	TGFBR2	0.790	0.360	3	30691477	missense variant	C/T	snv			7
rs104893811	TGFBR2	0.851	0.160	3	30674228	missense variant	C/T	snv			4
rs104893815	TGFBR2	0.851	0.240	3	30691478	missense variant	G/A	snv			4
rs104893816	TGFBR2	0.882	0.120	3	30674229	missense variant	G/A;T	snv	4.0E-06		3
rs104893819	TGFBR2	0.827	0.240	3	30688470	stop gained	C/G;T	snv			5
rs1052480459	FBN1	0.925	0.160	15	48437837	stop gained	C/A;G	snv		7.0E-06	2
rs1057518881	FBN1	0.827	0.200	15	48513656	missense variant	C/A;G;T	snv			6
rs1057521102	FBN1	0.925	0.160	15	48510088	missense variant	C/A;T	snv			2
rs1057523406	FBN1	0.925	0.160	15	48494209	missense variant	C/A;G;T	snv			2
rs1057524458	FBN1	0.925	0.160	15	48489988	missense variant	C/G	snv			2
rs1057524497	TGFBR1	1.000		9	99138017	stop gained	G/A;T	snv			1
rs1060500770	SMAD3	1.000		15	67184755	frameshift variant	-/GG	delins			1
rs1060500771	SMAD3	1.000		15	67166854	splice donor variant	G/T	snv			1
rs1060500773	SMAD3	1.000		15	67165278	frameshift variant	CACAC/-	delins			1
rs1060501017	FBN1	0.925	0.160	15	48505136	missense variant	A/C;G	snv			2
rs1060501021	FBN1	0.925	0.160	15	48494210	missense variant	A/G	snv			2
rs1060501022	FBN1	0.925	0.160	15	48496214	missense variant	A/G	snv			2
rs1060501023	FBN1	0.925	0.160	15	48430758	stop gained	G/A	snv			2
rs1060501029	FBN1	0.925	0.160	15	48446909	intron variant	T/C	snv			2
rs1060501033	FBN1	0.925	0.160	15	48411045	frameshift variant	A/-	del			2
rs1060501036	FBN1	0.925	0.160	15	48513599	missense variant	C/A;G	snv			2
rs1060501055	FBN1	0.925	0.160	15	48421997	missense variant	A/C	snv			2