DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Serum total cholesterol measurement ×

Variants associated to the Gene: LDLR ×

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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
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	10
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		6
rs17248720	LDLR			19	11087511	upstream gene variant	C/T	snv		0.16	4
rs2738446	LDLR			19	11116650	intron variant	C/A;G	snv		0.34	4
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	4
rs17242787	LDLR			19	11091784	intron variant	T/A	snv		6.4E-03	3
rs2569559	LDLR			19	11103857	non coding transcript exon variant	T/A;G	snv			3
rs2738450	LDLR			19	11118289	intron variant	C/A	snv		0.37	3
rs2738452	LDLR			19	11118542	intron variant	A/G	snv		0.34	3
rs4804144	LDLR			19	11125504	intron variant	C/A;T	snv			3
rs5925	LDLR	0.851	0.200	19	11120205	synonymous variant	T/C	snv	0.42	0.37	3
rs6413504	LDLR			19	11131239	intron variant	A/G	snv	0.45	0.39	3
rs6511721	LDLR			19	11095899	intron variant	G/A	snv		0.63	3
rs8102912	LDLR			19	11095299	intron variant	G/A;C	snv			3
rs8110695	LDLR			19	11095854	intron variant	T/A;C	snv			3
rs5742911	LDLR ; SPC24			19	11132769	3 prime UTR variant	A/G	snv		0.27	3
rs5930	MIR6886 ; LDLR	0.827	0.200	19	11113589	synonymous variant	A/G	snv	0.63	0.66	3
rs17249141	LDLR			19	11089332	upstream gene variant	C/T	snv		3.3E-03	2