DisGeNET - a database of gene-disease associations

List of associated variants

Coronary Arteriosclerosis, C0010054

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
rs3900940	MYH15	0.827	0.040	3	108428881	missense variant	T/A;C	snv	4.3E-06; 0.24		6
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	16
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs2287218	MVK	0.851	0.080	12	109581533	synonymous variant	C/T	snv	0.16	0.17	4
rs1805097	IRS2	0.689	0.360	13	109782884	missense variant	C/G;T	snv	0.35		22
rs565470	COL4A1	0.882	0.040	13	110186299	intron variant	A/G	snv		0.68	3
rs605143	COL4A1	0.882	0.040	13	110196387	intron variant	C/T	snv		0.34	3
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		14
rs72658855	LDLR	0.882	0.040	19	11100245	missense variant	C/G;T	snv	2.3E-03	9.4E-03	3
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
rs1035071612	MIR6886 ; LDLR	0.763	0.240	19	11113361	missense variant	C/A;T	snv	4.0E-06		9
rs7023923	LOC105376219	0.851	0.120	9	111163254	intron variant	T/A;C	snv			4
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	16
rs544456198	LDLR	0.790	0.120	19	11116930	missense variant	G/T	snv	8.0E-06	2.8E-05	9
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs35511654	TMIGD3 ; ADORA3	0.882	0.040	1	111500165	missense variant	T/G	snv	9.4E-02	9.8E-02	3
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs11066001	BRAP	0.763	0.360	12	111681367	intron variant	T/C	snv		5.8E-03	15
rs756140607	ALDH2	0.882	0.040	12	111790509	missense variant	G/A	snv	8.0E-06		3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs7819412	XKR6	0.827	0.120	8	11187652	intron variant	G/A;T	snv			6
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93