DisGeNET - a database of gene-disease associations

List of associated variants

Autosomal dominant hypocalcemia, C4048195

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
rs104893710	CASR	0.851	0.200	3	122284413	missense variant	C/T	snv			5
rs104893712	CASR	0.882	0.160	3	122283764	missense variant	G/A	snv			3
rs397514729	CASR	0.882	0.120	3	122254274	missense variant	A/G	snv			3
rs140749796	GNA11	0.925	0.080	19	3121122	missense variant	C/G;T	snv	8.0E-06		3
rs587777020	GNA11	0.925	0.080	19	3115009	missense variant	G/A	snv			3
rs771600279	ACKR3	1.000	0.080	2	236581483	missense variant	C/T	snv	2.4E-05	1.4E-05	2
rs751813138	CASR	1.000	0.080	3	122262113	missense variant	C/T	snv	4.0E-06		2
rs772749342	TGFBI	1.000	0.080	5	136053080	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		2
rs193922430	CASR	1.000	0.080	3	122283888	missense variant	C/A	snv			1