DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Glioma ×

Variants associated to the Gene: EFEMP1 ×

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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
rs3791679	EFEMP1 ; LOC112268416	0.925	0.120	2	55869757	intron variant	A/G	snv		0.20	11
rs3791675	EFEMP1	1.000	0.040	2	55884174	intron variant	C/T	snv		0.20	4
rs1346787	EFEMP1 ; LOC112268416	0.882	0.040	2	55865477	downstream gene variant	C/A;G;T	snv			3
rs1344733	EFEMP1	1.000	0.040	2	55900892	intron variant	T/C	snv		0.41	1
rs1346786	EFEMP1	1.000	0.040	2	55881198	intron variant	C/T	snv		0.36	1
rs727878	EFEMP1	1.000	0.040	2	55892522	intron variant	C/T	snv		0.40	1