DisGeNET - a database of gene-disease associations

List of associated variants

Hypoparathyroidism - autosomal dominant, C0342345

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
rs104893689	CASR	0.790	0.200	3	122261589	missense variant	G/A;C	snv			10
rs104893710	CASR	0.851	0.200	3	122284413	missense variant	C/T	snv			5
rs121909264	CASR	0.851	0.160	3	122257323	missense variant	G/A	snv			5
rs28936684	CASR	0.827	0.160	3	122261715	missense variant	G/A;T	snv	4.0E-06		5
rs767363250	CASR	0.827	0.280	3	122283992	missense variant	C/T	snv	4.0E-06	7.0E-06	5
rs104893706	CASR	0.851	0.240	3	122284482	missense variant	C/A	snv			4
rs104893708	CASR	0.851	0.160	3	122257269	missense variant	T/C	snv			4
rs1482119762	CASR	0.851	0.200	3	122261693	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs397514728	CASR	0.851	0.160	3	122261697	missense variant	C/A;T	snv			4
rs104893701	CASR	0.925	0.120	3	122284317	missense variant	T/G	snv			3
rs104893712	CASR	0.882	0.160	3	122283764	missense variant	G/A	snv			3
rs1057520791	CASR	0.882	0.160	3	122284611	missense variant	G/A;C	snv			3
rs1060502855	CASR	0.882	0.160	3	122261567	missense variant	A/G	snv			3
rs121909258	CASR	0.882	0.160	3	122284337	missense variant	C/T	snv		7.0E-06	3
rs121909259	CASR	0.882	0.160	3	122261924	missense variant	G/A	snv			3
rs121909260	CASR	0.882	0.160	3	122257275	missense variant	A/C;G	snv			3
rs886041154	CASR	0.882	0.160	3	122254353	missense variant	C/T	snv			3
rs104893691	CASR	0.925	0.120	3	122257241	missense variant	G/A	snv			2
rs104893693	CASR	0.925	0.120	3	122284371	missense variant	T/A;C	snv			2
rs104893694	CASR	0.925	0.120	3	122257347	missense variant	C/T	snv			2
rs104893695	CASR	0.925	0.120	3	122257249	missense variant	C/A	snv			2
rs104893696	CASR	0.925	0.120	3	122257277	missense variant	T/C	snv			2
rs104893697	CASR	0.925	0.120	3	122261606	missense variant	G/A	snv			2
rs104893698	CASR	0.925	0.120	3	122283789	missense variant	T/C	snv			2
rs104893699	CASR	0.925	0.120	3	122284272	missense variant	T/G	snv			2