DisGeNET - a database of gene-disease associations

List of associated variants

Aortic Aneurysm, Familial Thoracic 6, C2673186

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
rs387906592	STAMBPL1 ; ACTA2	0.752	0.280	10	88941309	missense variant	C/T	snv			14
rs886039303	STAMBPL1 ; ACTA2	0.882	0.160	10	88941310	missense variant	G/A	snv			5
rs397516685	ACTA2 ; ACTA2-AS1 ; STAMBPL1	0.882	0.120	10	88939680	missense variant	C/T	snv			3
rs121434526	STAMBPL1 ; ACTA2	0.882	0.120	10	88941794	missense variant	G/A	snv		7.0E-06	3
rs121434528	ACTA2-AS1 ; STAMBPL1 ; ACTA2	0.925	0.120	10	88939543	missense variant	G/A	snv		7.0E-06	2
rs112602953	ACTA2 ; STAMBPL1	0.925	0.120	10	88943813	missense variant	C/G;T	snv	4.0E-06		2
rs112901682	ACTA2 ; STAMBPL1	0.925	0.120	10	88948816	missense variant	G/A;C	snv			2
rs794728021	ACTA2 ; STAMBPL1	0.925	0.120	10	88948815	missense variant	C/T	snv			2
rs727502878	ACTA2 ; STAMBPL1 ; ACTA2-AS1	0.925	0.120	10	88939595	missense variant	C/G	snv			2
rs121434527	STAMBPL1 ; ACTA2-AS1 ; ACTA2	0.925	0.120	10	88939542	missense variant	C/T	snv			2
rs1057521105	ACTA2 ; STAMBPL1	1.000	0.120	10	88941291	missense variant	C/T	snv		7.1E-06	1
rs1554841298	ACTA2 ; STAMBPL1	1.000	0.120	10	88941384	missense variant	A/G	snv			1
rs1254836237	STAMBPL1 ; ACTA2	1.000	0.120	10	88947270	missense variant	G/A;C	snv		2.1E-05	1
rs397515325	STAMBPL1 ; ACTA2	1.000	0.120	10	88947371	missense variant	T/C	snv			1
rs751300489	STAMBPL1 ; ACTA2	1.000	0.120	10	88941836	missense variant	A/G	snv	2.0E-05	2.8E-05	1
rs777832794	STAMBPL1 ; ACTA2 ; ACTA2-AS1	1.000	0.120	10	88938074	missense variant	G/T	snv	6.0E-05	2.8E-05	1