DisGeNET - a database of gene-disease associations

List of shared variants

Aortic Aneurysm, C0003486

Disease: Aortic Aneurysm, Abdominal

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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs5516	KLK1	0.827	0.120	19	50820217	missense variant	C/G	snv	0.69	0.67	6
rs12191786	CASC15	0.851	0.120	6	22004398	intron variant	C/A;T	snv			4