DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: EFCAB13 ×

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
rs113600793	EFCAB13			17	47384095	intron variant	C/A;T	snv			3
rs7206971	EFCAB13			17	47347749	intron variant	G/A;T	snv		0.47	3
rs118004742	EFCAB13	0.925	0.080	17	47391492	stop gained	T/G	snv	4.4E-02	4.2E-02	2
rs1912483	EFCAB13			17	47366128	intron variant	A/G	snv		0.53	1
rs62076505	EFCAB13			17	47420073	intron variant	A/C;G	snv			1