DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: PFKFB4 ×

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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
rs191903670	PFKFB4			3	48540620	intron variant	A/T	snv		1.1E-02	2
rs9839959	PFKFB4 ; UCN2			3	48562465	3 prime UTR variant	G/A	snv		6.4E-02	2
rs74780677	COL7A1 ; PFKFB4 ; UCN2			3	48564341	3 prime UTR variant	A/G	snv		1.5E-02	1