DisGeNET - a database of gene-disease associations

List of associated variants

Acth-Independent Macronodular Adrenal Hyperplasia, C1857451

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
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06		22
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs137854530	GNAS	0.776	0.240	20	58891727	start lost	A/G;T	snv			8
rs757196717	ADRA1A	0.925	0.040	8	26770273	missense variant	C/G;T	snv	4.0E-06		2
rs767958027	ADRA2B	0.925	0.040	2	96114892	missense variant	A/T	snv			2
rs200945454	EDNRA	0.925	0.040	4	147542593	missense variant	G/A;C	snv			2
rs28926182	MC2R	1.000	0.040	18	13884686	missense variant	A/C;T	snv	5.8E-03; 8.0E-06		1