DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Red Blood Cell Count measurement ×

Variants associated to the Gene: HK1 ×

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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
rs17476364	HK1			10	69334748	intron variant	T/C	snv		6.4E-02	8
rs10159477	HK1			10	69340132	intron variant	G/A	snv		0.14	3
rs4745982	HK1			10	69330087	intron variant	T/G	snv		8.3E-02	1