DisGeNET - a database of gene-disease associations

List of associated variants

Dissection of aorta, C0340643

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
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs727503057	FBN1	0.708	0.280	15	48505106	missense variant	G/A	snv		7.0E-06	16
rs121908029	LDLR	0.763	0.200	19	11105588	stop gained	G/A;C;T	snv	1.6E-05; 1.6E-05; 8.1E-06		13
rs730880099	FBN1	0.742	0.200	15	48510125	missense variant	G/A	snv			11
rs137854467	FBN1	0.790	0.280	15	48600217	missense variant	G/A	snv			7
rs2359612	VKORC1	0.851	0.120	16	31092475	intron variant	A/G	snv		0.66	7
rs2118181	FBN1	0.851	0.040	15	48623687	intron variant	T/C	snv		0.23	6
rs1036477	FBN1	0.882	0.040	15	48622729	intron variant	A/G	snv		0.24	5
rs1057518809	FBN1	0.925	0.160	15	48425795	missense variant	T/C	snv			4
rs2274756	MMP9 ; SLC12A5-AS1	0.851	0.200	20	46014472	missense variant	G/A;C	snv			4
rs1057518973	FBN1	0.925	0.120	15	48596343	missense variant	A/C;G	snv			3
rs4774517	FBN1	0.882	0.040	15	48467094	intron variant	G/T	snv		0.34	3
rs755251	FBN1	0.925	0.040	15	48519823	intron variant	A/G;T	snv			2
rs1553507345	COL3A1	1.000	0.040	2	188989397	missense variant	GC/AA	mnv			1
rs10263935	KCTD7	1.000	0.040	7	66631041	intron variant	G/A	snv		0.51	1
rs6045676	PDYN-AS1	1.000	0.040	20	1960525	intron variant	G/A;C;T	snv			1