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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	17
rs146292819	ABCA1	0.790	0.240	9	104794495	missense variant	T/G	snv	2.9E-04	3.8E-04	9
rs1051338	LIPA	0.807	0.120	10	89247603	missense variant	T/G	snv	0.32	0.26	7
rs1408888	DACH1	0.851	0.120	13	71854515	intron variant	T/G	snv		0.30	5
rs9289231	KALRN	0.827	0.120	3	124055231	intergenic variant	T/G	snv		0.15	5
rs1870634		0.851	0.080	10	43985363	downstream gene variant	T/G	snv		0.59	4
rs640198	MMP13	0.851	0.040	11	102954362	intron variant	T/G	snv		0.68	4
rs35511654	TMIGD3 ; ADORA3	0.882	0.040	1	111500165	missense variant	T/G	snv	9.4E-02	9.8E-02	3
rs3805489	PRKAA1	0.882	0.040	5	40793242	intron variant	T/G	snv		0.22	3
rs5705	REN	0.882	0.040	1	204162058	synonymous variant	T/G	snv	0.14	0.18	3
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs6721961	NFE2L2	0.672	0.520	2	177265309	intron variant	T/C;G	snv		0.89	24
rs1063856	VWF	0.763	0.400	12	6044368	missense variant	T/C;G	snv	0.31		14
rs1010	VAMP8	0.807	0.120	2	85581859	3 prime UTR variant	T/C;G	snv			7
rs150629733	AGTR1	0.851	0.080	3	148741190	missense variant	T/C;G	snv	4.0E-06; 8.8E-05		4
rs16971436	ZFHX3	0.851	0.080	16	72958864	missense variant	T/C;G	snv	1.2E-05; 7.1E-02		4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77