DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: PEF1 ×

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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
rs10798879	HCRTR1 ; PEF1			1	31631214	intron variant	T/C	snv		0.55	1
rs10798880	HCRTR1 ; PEF1			1	31631487	intron variant	G/A;T	snv			1
rs4949454	PEF1			1	31633440	intron variant	G/A;C	snv			1
rs7546297	PEF1			1	31640893	intron variant	A/G	snv		0.54	1
rs10798882	PEF1 ; PEF1-AS1			1	31642946	intron variant	C/G	snv		0.58	1