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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
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
rs3877899	CCDC152 ; SELENOP	0.827	0.160	5	42801166	missense variant	C/A;T	snv	4.0E-06; 0.20		7
rs5516	KLK1	0.827	0.120	19	50820217	missense variant	C/G	snv	0.69	0.67	6
rs1057335	SERPINF2	0.827	0.120	17	1754359	missense variant	G/A	snv	0.22	0.20	5
rs61758388	LOC107987234 ; XYLT1	0.851	0.360	16	17470454	missense variant	C/A;G	snv	2.7E-02		4
rs486055	MMP10 ; WTAPP1	0.925	0.120	11	102779693	missense variant	C/G;T	snv	1.2E-05; 0.10		3
rs137854485	FBN1	0.925	0.160	15	48515402	missense variant	G/A	snv			2
rs201191171	SLC12A5-AS1 ; MMP9	0.925	0.080	20	46013279	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		2
rs773474756	MMP1 ; WTAPP1	0.925	0.080	11	102790467	missense variant	T/C	snv	8.1E-06		2
rs1418184396	SERPINF1	1.000	0.040	17	1776722	missense variant	C/T	snv	4.0E-06		1
rs1419338705	ELN	1.000	0.040	7	74048163	missense variant	C/T	snv		7.0E-06	1
rs2070863	SERPINF2	1.000	0.040	17	1745208	missense variant	C/G;T	snv	0.24		1
rs2306691	LRP1-AS ; LRP1	1.000	0.040	12	57145019	missense variant	A/G	snv	2.0E-05	2.1E-05	1
rs766407419	SERPINF2	1.000	0.040	17	1745008	missense variant	T/C	snv	8.0E-06	1.4E-05	1
rs767169659	MYLK	1.000	0.040	3	123733800	missense variant	G/A	snv	1.2E-05		1
rs77294580	ACE	1.000	0.040	17	63480396	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1
rs782591769	ELN	1.000	0.040	7	74045237	missense variant	G/C	snv	8.0E-06		1