DisGeNET - a database of gene-disease associations

List of shared variants

Frontotemporal dementia, C0338451

Disease: Pick Disease of the Brain

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
rs747105516	PSPH	0.851	0.120	7	56015139	missense variant	T/C	snv	4.0E-06		5
rs63750900	PSEN1	0.763	0.160	14	73198067	missense variant	G/A	snv	4.0E-06	7.0E-06	9
rs964520949	PSPH	0.925	0.120	7	56019715	missense variant	C/T	snv	2.2E-04; 4.0E-06	1.9E-04	2
rs1417373701	SLCO6A1	0.925	0.120	5	102399606	missense variant	G/A	snv	4.0E-06		2
rs1314736087	SYBU	0.851	0.120	8	109575782	frameshift variant	GA/-	delins	4.0E-06		5
rs63750129	MAPT	0.882	0.120	17	45996612	missense variant	A/C	snv	4.0E-06		4
rs63750349	MAPT	0.851	0.200	17	45996638	missense variant	C/G;T	snv	4.0E-06		5
rs773403329	SLCO6A1	0.925	0.120	5	102419925	missense variant	A/G	snv	4.1E-06	7.0E-06	2
rs774890160	MAPT	0.925	0.120	17	45974388	missense variant	T/C	snv	4.2E-06		2
rs760049824	MAPT	0.882	0.120	17	45983867	missense variant	T/A;C	snv	4.2E-06; 8.5E-06		3
rs751739883	MAPT	0.925	0.120	17	45983891	missense variant	C/T	snv	4.4E-06		2
rs387906711	UBQLN2	0.807	0.120	X	56565389	missense variant	C/A;T	snv	6.6E-06		6
rs63750082	PSEN1	0.732	0.120	14	73192712	missense variant	G/C;T	snv	8.0E-06		13
rs80356715	TARDBP	0.807	0.120	1	11016874	missense variant	C/G;T	snv	8.0E-06; 2.2E-04		6
rs747481280	OPTN	0.851	0.120	10	13132068	missense variant	T/G	snv	8.0E-06		4
rs544706237	REG1A	0.851	0.120	2	79121649	missense variant	A/G;T	snv	8.0E-06; 5.2E-05		5
rs1401496725	REG1A	0.925	0.120	2	79121657	missense variant	C/G;T	snv	8.0E-06; 8.0E-06		2
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs781049584	APP	0.724	0.280	21	26021917	missense variant	T/G	snv	8.2E-06	7.0E-06	18
rs139108915	PAX5	0.925	0.120	9	36840599	missense variant	G/A	snv	1.0E-05	9.8E-05	3
rs767379602	VCP	0.882	0.120	9	35060823	missense variant	C/T	snv	1.2E-05	7.0E-06	3
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs63750512	MAPT	0.827	0.160	17	46024010	missense variant	G/A;C	snv	1.2E-05		6
rs767076633	TBK1	0.925	0.120	12	64484311	missense variant	T/C	snv	1.2E-05		2
rs63750424	MAPT	0.677	0.240	17	46024061	missense variant	C/T	snv	1.6E-05		30