DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hypocalcemia ×

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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
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs1057518907	GNAS	0.732	0.320	20	58891811	stop gained	C/G;T	snv			16
rs587777011	FAM111A	0.925	0.160	11	59153374	missense variant	G/A	snv			7
rs104893710	CASR	0.851	0.200	3	122284413	missense variant	C/T	snv			1
rs140749796	GNA11	0.925	0.080	19	3121122	missense variant	C/G;T	snv	8.0E-06		1
rs587777020	GNA11	0.925	0.080	19	3115009	missense variant	G/A	snv			1