DisGeNET - a database of gene-disease associations

List of associated variants

Primary Progressive Nonfluent Aphasia, C0751706

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
rs63751273	MAPT	0.645	0.280	17	46010389	missense variant	C/T	snv			42
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs63750869	MAPT	0.827	0.160	17	46018707	missense variant	G/A	snv	2.4E-05	5.6E-05	6
rs762046989	MAPT	0.851	0.200	17	45971867	missense variant	C/G	snv	8.0E-06		5
rs63750541	GRN	0.851	0.160	17	44351586	missense variant	G/A;C	snv	8.4E-04		4
rs753070659	GRN	0.851	0.160	17	44350481	missense variant	G/A;C	snv	1.2E-05		4
rs1026683055	GRN	0.882	0.200	17	44351429	missense variant	C/T	snv	1.6E-05	1.5E-05	3
rs553119528	GRN	0.882	0.160	17	44352489	missense variant	G/A	snv	5.2E-05	6.3E-05	3
rs267604921	MAPT	0.925	0.160	17	45993953	missense variant	C/A;G;T	snv	6.3E-05; 2.5E-04; 5.3E-06		3
rs533610448	MAPT	0.882	0.240	17	45983334	missense variant	A/T	snv	9.8E-05	6.3E-05	3
rs762104961	MAPT	0.882	0.200	17	46024014	missense variant	C/T	snv	4.0E-06		3
rs1038579230	VCP	0.882	0.200	9	35067913	missense variant	C/A	snv			3
rs1565825132	TBK1	1.000	0.160	12	64498008	stop gained	G/T	snv			2