DisGeNET - a database of gene-disease associations

List of associated variants

Adrenal Cushing's syndrome, C0342443

Source: ALL

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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
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs41423247	NR3C1	0.695	0.440	5	143399010	intron variant	G/C	snv		0.31	23
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06		22
rs6198	NR3C1	0.724	0.480	5	143278056	3 prime UTR variant	T/C	snv		0.12	16
rs6189	NR3C1	0.827	0.240	5	143400774	missense variant	C/A;T	snv	4.0E-06; 1.8E-02		6
rs6190	NR3C1	0.827	0.120	5	143400772	missense variant	C/G;T	snv	4.0E-06; 1.8E-02		6
rs386352352	PRKACA	0.851	0.080	19	14097604	missense variant	A/C	snv			6
rs76308115	PDE11A	0.851	0.080	2	178014454	stop gained	G/A	snv	2.9E-03	2.9E-03	5
rs1333998849	NR3C1	0.925	0.040	5	143295540	missense variant	T/C	snv		1.4E-05	2