DisGeNET - a database of gene-disease associations

List of shared variants

Hypertensive disease, C0020538

Disease: Coronary heart disease

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
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs10118757	MTAP	0.827	0.120	9	21853340	intron variant	A/G	snv		0.26	7
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs10509681	CYP2C8	0.807	0.160	10	95038992	missense variant	T/C	snv	8.3E-02	8.0E-02	8
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs11014166	CACNB2	0.882	0.040	10	18419869	intron variant	A/T	snv		0.27	10
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	10
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv			16
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11879293	SMARCA4	0.882	0.120	19	10961934	intron variant	G/A;C;T	snv			4
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16