DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Low density lipoprotein cholesterol measurement ×

Variants associated to the Gene: HMGCR ×

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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
rs12916	HMGCR ; CERT1	0.807	0.240	5	75360714	3 prime UTR variant	T/C;G	snv		0.37	3
rs10038095	HMGCR			5	75341886	intron variant	A/T	snv		0.38	2
rs10045497	HMGCR			5	75340659	intron variant	C/A	snv		0.35	2
rs12654264	HMGCR	0.925	0.120	5	75352778	intron variant	A/T	snv		0.38	2
rs3843482	HMGCR			5	75343434	intron variant	T/G	snv		0.35	2
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	2
rs3846663	HMGCR ; CERT1	0.882	0.120	5	75359901	intron variant	C/T	snv		0.35	2
rs3846661	HMGCR			5	75343353	intron variant	A/G	snv		0.56	1