DisGeNET - a database of gene-disease associations

List of shared variants

Familial thoracic aortic aneurysm and aortic dissection, C4707243

Disease: Loeys-Dietz Syndrome

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
rs111854391	TGFBR1	0.716	0.280	9	99138006	stop gained	C/A;T	snv	4.0E-06		18
rs104893810	TGFBR2	0.790	0.360	3	30691477	missense variant	C/T	snv			7
rs104893819	TGFBR2	0.827	0.240	3	30688470	stop gained	C/G;T	snv			5
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
rs111426349	TGFBR1	0.882	0.120	9	99149252	missense variant	C/A;T	snv	4.0E-06		4
rs137854478	FBN1	0.851	0.160	15	48488233	missense variant	C/T	snv			4
rs113605875	TGFBR1	0.882	0.120	9	99149253	missense variant	G/A;C;T	snv			3
rs727503475	TGFBR2	0.882	0.120	3	30688512	splice donor variant	G/A;T	snv			3
rs727504292	TGFBR2	0.882	0.120	3	30672250	missense variant	G/A;C	snv	1.6E-05		3
rs727503477	TGFBR2	0.925	0.120	3	30691486	missense variant	G/A	snv			2