DisGeNET - a database of gene-disease associations

List of associated variants

McCune-Albright Syndrome, C0242292

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
rs121913494	GNAS	0.827	0.240	20	58909541	missense variant	A/G;T	snv			7
rs768713502	AMH ; MIR4321	0.882	0.120	19	2250752	missense variant	G/A;T	snv	7.6E-06; 1.5E-05		5
rs1440530084	COASY	0.882	0.040	17	42563227	missense variant	G/A	snv	4.0E-06	1.4E-05	3
rs137854533	GNAS	0.925	0.040	20	58909542	missense variant	G/C;T	snv			2
rs1569032751	GNAS	1.000	0.040	20	58910787	inframe deletion	CAT/-	delins			1
rs797045203	GNAS	1.000	0.040	20	58909540	missense variant	C/A	snv			1