DisGeNET - a database of gene-disease associations

List of associated variants

Aortic Aneurysm, Abdominal, C0162871

Source: ALL

Results per page

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
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs486055	MMP10 ; WTAPP1	0.925	0.120	11	102779693	missense variant	C/G;T	snv	1.2E-05; 0.10		3
rs773474756	MMP1 ; WTAPP1	0.925	0.080	11	102790467	missense variant	T/C	snv	8.1E-06		2
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
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv		0.63	10
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs3019885	SLC30A8	0.925	0.120	8	117013406	intron variant	T/A;G	snv			2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs7025486	DAB2IP	0.851	0.040	9	121660124	intron variant	G/A	snv		0.28	4
rs10985349	DAB2IP	1.000	0.040	9	121662964	intron variant	C/T	snv		0.17	1
rs767169659	MYLK	1.000	0.040	3	123733800	missense variant	G/A	snv	1.2E-05		1
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs12695895	AGTR1	0.925	0.040	3	148725481	intron variant	C/T	snv		0.31	3
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
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
rs6674171	TDRD10	1.000	0.040	1	154519207	intron variant	A/G;T	snv		0.19	1