DisGeNET - a database of gene-disease associations

List of associated variants

Atherosclerosis, C0004153

Source: GWASCAT ×

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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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	34
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	21
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	18
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	18
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			16
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		13
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	12
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	10
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	10
rs2107595		0.732	0.280	7	19009765	regulatory region variant	G/A	snv		0.19	8
rs116843064	ANGPTL4	0.776	0.160	19	8364439	missense variant	G/A	snv	1.3E-02	1.5E-02	7
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	7
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		7
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	7
rs2972146		0.882	0.040	2	226235982	intergenic variant	G/T	snv		0.72	6
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			6
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		6
rs867186	PROCR ; MMP24-AS1-EDEM2	0.752	0.120	20	35176751	missense variant	A/G	snv	0.10	9.7E-02	6
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			6
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		6
rs2943634		0.763	0.200	2	226203364	intergenic variant	A/C;G	snv			5
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	5
rs445925	APOC1	0.882	0.080	19	44912383	non coding transcript exon variant	G/A;C	snv			5