DisGeNET - a database of gene-disease associations

Source: GWASCAT

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

Variants associated to the Gene: LDLR ×

Results per page

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	7
rs17249141	LDLR			19	11089332	upstream gene variant	C/T	snv		3.3E-03	3
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		2
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	2
rs2738464	SPC24 ; LDLR	1.000	0.120	19	11131631	3 prime UTR variant	G/C	snv	0.82	0.80	2
rs2738446	LDLR			19	11116650	intron variant	C/A;G	snv		0.34	1
rs2738452	LDLR			19	11118542	intron variant	A/G	snv		0.34	1
rs72658860	LDLR	1.000	0.080	19	11110681	missense variant	G/A	snv	8.8E-04	3.9E-03	1
rs11669576	LDLR ; MIR6886	0.851	0.160	19	11111624	missense variant	G/A	snv	4.3E-02	8.4E-02	1
rs5930	MIR6886 ; LDLR	0.827	0.200	19	11113589	synonymous variant	A/G	snv	0.63	0.66	1