DisGeNET - a database of gene-disease associations

List of associated variants

Hypocalcemia, C0020598

Source: ALL

Results per page

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			28
rs1042636	CASR	0.672	0.360	3	122284922	missense variant	A/G	snv	0.15	9.0E-02	23
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			5
rs199473648	LOC105372791 ; KCNE2	1.000	0.080	21	34370507	missense variant	C/T	snv	2.5E-04	2.4E-04	4
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
rs750295789	PTH	0.925	0.040	11	13492788	stop gained	G/T	snv	4.0E-06		3
rs771600279	ACKR3	1.000	0.080	2	236581483	missense variant	C/T	snv	2.4E-05	1.4E-05	2
rs1385228926	CASR	1.000	0.040	3	122284388	missense variant	C/T	snv			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