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
rs8003379	MTHFD1	0.882	0.160	14	64406881	intron variant	A/C	snv		0.23	3
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs2234681	MMP9	1.000	0.040	20	46008773	upstream gene variant	ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC	delins			2
rs8125581	MMP9	1.000	0.040	20	46010604	missense variant	G/A	snv	3.0E-04	3.4E-04	1
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs773474756	MMP1 ; WTAPP1	0.925	0.080	11	102790467	missense variant	T/C	snv	8.1E-06		2
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs486055	MMP10 ; WTAPP1	0.925	0.120	11	102779693	missense variant	C/G;T	snv	1.2E-05; 0.10		3
rs1057518075	MIR3606 ; COL3A1	1.000	0.040	2	188995061	stop gained	C/T	snv			1
rs4988300	LRP5	0.925	0.120	11	68321363	intron variant	G/T	snv		0.50	2
rs3781590	LRP5	1.000	0.040	11	68391684	intron variant	G/A	snv		0.35	1
rs2306691	LRP1-AS ; LRP1	1.000	0.040	12	57145019	missense variant	A/G	snv	2.0E-05	2.1E-05	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
rs61758388	LOC107987234 ; XYLT1	0.851	0.360	16	17470454	missense variant	C/A;G	snv	2.7E-02		4
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs13382862	LDAH	1.000	0.040	2	20682689	upstream gene variant	A/G;T	snv		0.59	1
rs5516	KLK1	0.827	0.120	19	50820217	missense variant	C/G	snv	0.69	0.67	6
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs12133641	IL6R	0.925	0.040	1	154455807	intron variant	A/G	snv		0.44	3
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108