DisGeNET - a database of gene-disease associations

List of associated variants

Aortic Aneurysm, C0003486

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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
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
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs727503054	FBN1	0.732	0.200	15	48420752	missense variant	A/G;T	snv	1.6E-05		15
rs2118181	FBN1	0.851	0.040	15	48623687	intron variant	T/C	snv		0.23	6
rs5516	KLK1	0.827	0.120	19	50820217	missense variant	C/G	snv	0.69	0.67	6
rs900	TGFB2-OT1 ; TGFB2	0.882	0.040	1	218441563	3 prime UTR variant	A/T	snv		0.33	6
rs1036477	FBN1	0.882	0.040	15	48622729	intron variant	A/G	snv		0.24	5
rs140598	FBN1	0.827	0.160	15	48487333	missense variant	G/A;C	snv	3.2E-02		5
rs12191786	CASC15	0.851	0.120	6	22004398	intron variant	C/A;T	snv			4
rs1465567	EGFLAM	0.882	0.040	5	38370435	missense variant	T/C	snv	0.20	0.25	3
rs4774517	FBN1	0.882	0.040	15	48467094	intron variant	G/T	snv		0.34	3
rs10519177	FBN1	0.925	0.040	15	48464998	intron variant	A/G	snv		0.35	2
rs755251	FBN1	0.925	0.040	15	48519823	intron variant	A/G;T	snv			2
rs113358395	COQ8B	1.000	0.040	19	40714313	missense variant	G/A;C	snv	3.8E-03	3.5E-03	1
rs191645600	NOTCH1	1.000	0.040	9	136505728	missense variant	G/T	snv	5.8E-04	6.0E-04	1
rs1343555503	SMAD4	1.000	0.040	18	51058364	missense variant	G/A	snv	4.0E-06		1