DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Red cell distribution width determination ×

Variants associated to the Gene: PNKD ×

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
rs1877712	PNKD			2	218303709	intron variant	G/A	snv		0.43	2
rs4674280	PNKD ; TMBIM1			2	218276735	intron variant	C/G	snv		0.50	2