DisGeNET - a database of gene-disease associations

List of associated variants

Aortic Aneurysm, Abdominal, C0162871

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
rs7866503	CDKN2B-AS1	0.882	0.080	9	22091925	intron variant	G/T	snv		0.50	3
rs10758278	PHF24	1.000	0.040	9	34825306	intron variant	G/A	snv		0.53	1
rs13382862	LDAH	1.000	0.040	2	20682689	upstream gene variant	A/G;T	snv		0.59	1
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv		0.63	10
rs1524668	ADAM17	0.851	0.160	2	9557243	upstream gene variant	A/C	snv		0.64	4
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs2479409	PCSK9	1.000	0.040	1	55038977	upstream gene variant	G/A	snv		0.66	4
rs5516	KLK1	0.827	0.120	19	50820217	missense variant	C/G	snv	0.69	0.67	6
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs4916251	DNM3 ; PIGC	0.882	0.040	1	172377256	intron variant	T/A	snv		0.70	3
rs1036095	TGFBR2	1.000	0.040	3	30620836	intron variant	C/G	snv		0.72	1
rs12692386	ADAM17	0.827	0.160	2	9555777	5 prime UTR variant	A/G	snv		0.72	5