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
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs486055	MMP10 ; WTAPP1	0.925	0.120	11	102779693	missense variant	C/G;T	snv	1.2E-05; 0.10		3
rs4988300	LRP5	0.925	0.120	11	68321363	intron variant	G/T	snv		0.50	2
rs773474756	MMP1 ; WTAPP1	0.925	0.080	11	102790467	missense variant	T/C	snv	8.1E-06		2
rs3781590	LRP5	1.000	0.040	11	68391684	intron variant	G/A	snv		0.35	1
rs1466535	LRP1	0.790	0.160	12	57140687	intron variant	G/A;C	snv			9
rs1385526	LRP1	1.000	0.040	12	57138966	intron variant	G/C	snv		0.26	1
rs2306691	LRP1-AS ; LRP1	1.000	0.040	12	57145019	missense variant	A/G	snv	2.0E-05	2.1E-05	1
rs1265538677	CPB2-AS1 ; CPB2	0.790	0.200	13	46055808	synonymous variant	A/G	snv	4.0E-06		10
rs9316871		1.000	0.040	13	22287782	intergenic variant	A/G	snv		0.22	1
rs8003379	MTHFD1	0.882	0.160	14	64406881	intron variant	A/C	snv		0.23	3
rs595244	FBN1	0.882	0.080	15	48548638	intron variant	C/T	snv		7.7E-02	3
rs137854485	FBN1	0.925	0.160	15	48515402	missense variant	G/A	snv			2
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv		0.31	26
rs61758388	LOC107987234 ; XYLT1	0.851	0.360	16	17470454	missense variant	C/A;G	snv	2.7E-02		4
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins			25
rs1057335	SERPINF2	0.827	0.120	17	1754359	missense variant	G/A	snv	0.22	0.20	5
rs1418184396	SERPINF1	1.000	0.040	17	1776722	missense variant	C/T	snv	4.0E-06		1
rs2070863	SERPINF2	1.000	0.040	17	1745208	missense variant	C/G;T	snv	0.24		1
rs766407419	SERPINF2	1.000	0.040	17	1745008	missense variant	T/C	snv	8.0E-06	1.4E-05	1
rs77294580	ACE	1.000	0.040	17	63480396	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1