DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Finding of Mean Corpuscular Hemoglobin ×

Variants associated to the Gene: CATSPER2P1 ×

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
rs147233090	CATSPER2P1	0.925	0.040	15	43735849	intron variant	C/T	snv		1.7E-02	6
rs139974673	CATSPER2P1			15	43735687	intron variant	T/C	snv		2.0E-02	2