DisGeNET - a database of gene-disease associations

Source: ALL

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

Variants associated to the Gene: HPR ×

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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
rs2000999	HPR ; TXNL4B	1.000	0.080	16	72074194	intron variant	G/A	snv		0.16	7
rs3794695	HPR ; TXNL4B			16	72063928	intron variant	C/A;T	snv			4
rs34042070	TXNL4B ; HPR			16	72067626	intron variant	C/G	snv		0.17	4