DisGeNET - a database of gene-disease associations

List of associated variants

Pituitary-dependent Cushing's disease, C0221406

Source: ALL

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
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs773454677	EGFR	0.925	0.160	7	55205466	missense variant	G/A	snv	1.2E-05		3
rs137853226	GNAI2	0.882	0.160	3	50256262	missense variant	C/G;T	snv			3
rs672601307	USP8	1.000	0.080	15	50490443	missense variant	T/C	snv			2
rs672601306	USP8	1.000	0.080	15	50490442	inframe deletion	TCC/-	delins			1
rs672601308	USP8	1.000	0.080	15	50490444	missense variant	C/G	snv			1
rs672601311	USP8	1.000	0.080	15	50490450	missense variant	C/G	snv			1