DisGeNET - a database of gene-disease associations

List of associated variants

Arteriosclerosis, C0003850

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
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs769442590	LPL	0.925	0.040	8	19960927	missense variant	A/C;G	snv	1.6E-05		2
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	25
rs767523236	MPO	0.925	0.040	17	58279033	missense variant	T/C	snv	4.1E-06	7.0E-06	2
rs7629265	SCN5A	0.882	0.080	3	38607330	intron variant	C/T	snv		2.3E-02	3
rs762513613	FCGR2C	0.752	0.280	1	161591315	missense variant	A/G	snv	4.2E-06	7.4E-06	11
rs759003763	MIR6886 ; LDLR	0.827	0.120	19	11113585	missense variant	G/A	snv			6
rs755725121	PIK3CD	0.882	0.080	1	9716029	missense variant	G/A	snv	2.1E-05	7.0E-06	4
rs755460305	KNG1	0.882	0.080	3	186732650	missense variant	C/A	snv			4
rs750996166	USF1	0.925	0.040	1	161041409	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs750805885	MCL1 ; LOC107985203	0.882	0.080	1	150579475	frameshift variant	-/C	delins	4.7E-06		3
rs749582333	NOX4	0.925	0.040	11	89340157	frameshift variant	G/-	delins			2
rs746481995	HSD11B1 ; HSD11B1-AS1	0.882	0.120	1	209707123	missense variant	T/C	snv	4.0E-06		3
rs74577862	ADIPOQ	0.882	0.080	3	186843903	intron variant	G/A	snv		1.8E-02	3
rs7439293	PALLD	0.807	0.080	4	168756335	non coding transcript exon variant	G/A	snv		0.44	6
rs72661131	MBL2	0.742	0.480	10	52771739	upstream gene variant	A/G	snv		7.6E-04	15
rs7217186	ALOX15	0.827	0.120	17	4636097	intron variant	C/T	snv		0.45	5
rs7216389	GSDMB	0.732	0.440	17	39913696	intron variant	C/T	snv		0.60	14
rs7177922	RYR3	0.925	0.040	15	33616418	intron variant	G/A	snv		0.19	2
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs6918289	ADCY10P1	0.925	0.040	6	41134089	intron variant	G/T	snv		9.8E-02	2
rs6903956	ADTRP	0.763	0.160	6	11774350	intron variant	A/G	snv		0.65	10
rs67608943	PCSK9	0.851	0.080	1	55046549	stop gained	C/G;T	snv	1.9E-04		8
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs6666258	KCNN3	0.882	0.080	1	154841792	intron variant	G/C	snv		0.30	3