DisGeNET - a database of gene-disease associations

List of shared variants

Serum total cholesterol measurement, C1445957

Disease: Atherosclerosis

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		26
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			16
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs67608943	PCSK9	0.851	0.080	1	55046549	stop gained	C/G;T	snv	1.9E-04		8
rs28362286	PCSK9	0.851	0.080	1	55063542	stop gained	C/A;T	snv	5.6E-04		6