DisGeNET - a database of gene-disease associations

List of shared variants

Hyperparathyroidism, C0020502

Disease: Hypercalcemia

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
rs1801725	CASR	0.633	0.600	3	122284910	missense variant	G/T	snv	0.13	0.11	39
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
rs104893689	CASR	0.790	0.200	3	122261589	missense variant	G/A;C	snv			10
rs201858689	CASR	0.882	0.120	3	122284257	missense variant	G/T	snv	2.8E-05		3