DisGeNET - a database of gene-disease associations

List of associated variants

Pick Disease of the Brain, C0236642

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
rs9897526	GRN	0.925	0.120	17	44349572	non coding transcript exon variant	G/A;C	snv	0.16		2
rs964520949	PSPH	0.925	0.120	7	56019715	missense variant	C/T	snv	2.2E-04; 4.0E-06	1.9E-04	2
rs866604606	MAPK1	0.882	0.120	22	21772907	missense variant	G/A	snv			4
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		6
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs774890160	MAPT	0.925	0.120	17	45974388	missense variant	T/C	snv	4.2E-06		2
rs773403329	SLCO6A1	0.925	0.120	5	102419925	missense variant	A/G	snv	4.1E-06	7.0E-06	2
rs767543900	MAPT	0.790	0.120	17	45971879	missense variant	A/C;G	snv	4.0E-06		10
rs767379602	VCP	0.882	0.120	9	35060823	missense variant	C/T	snv	1.2E-05	7.0E-06	3
rs767076633	TBK1	0.925	0.120	12	64484311	missense variant	T/C	snv	1.2E-05		2
rs760049824	MAPT	0.882	0.120	17	45983867	missense variant	T/A;C	snv	4.2E-06; 8.5E-06		3
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs751739883	MAPT	0.925	0.120	17	45983891	missense variant	C/T	snv	4.4E-06		2
rs747481280	OPTN	0.851	0.120	10	13132068	missense variant	T/G	snv	8.0E-06		4
rs747105516	PSPH	0.851	0.120	7	56015139	missense variant	T/C	snv	4.0E-06		5
rs747019990	PRNP	0.851	0.120	20	4699336	missense variant	C/T	snv	3.6E-05	7.0E-06	4
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs661	PSEN1	0.807	0.120	14	73217225	missense variant	G/A;T	snv	4.0E-06		6
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs63751287	PSEN1	0.742	0.120	14	73192792	missense variant	A/G;T	snv			13
rs63751278	PSEN1	0.827	0.120	14	73173631	missense variant	A/G	snv			6
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42