DisGeNET - a database of gene-disease associations

List of associated variants

Atherosclerosis, C0004153

Source: CURATED ×

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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	39
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	31
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	29
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	25
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	21
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			19
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	16
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	15
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		14
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	13
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		12
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	12
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	11
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			11
rs445925	APOC1	0.882	0.080	19	44912383	non coding transcript exon variant	G/A;C	snv			10
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			10
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	10
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	9
rs2107595		0.732	0.280	7	19009765	regulatory region variant	G/A	snv		0.19	8
rs2943634		0.763	0.200	2	226203364	intergenic variant	A/C;G	snv			8
rs116843064	ANGPTL4	0.776	0.160	19	8364439	missense variant	G/A	snv	1.3E-02	1.5E-02	8
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	8
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		8
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	8