DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Familial (FPAH) ×

Variants associated to the Gene: MAPT ×

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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			39
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
rs767543900	MAPT	0.790	0.120	17	45971879	missense variant	A/C;G	snv	4.0E-06		10
rs63749855	MAPT	0.790	0.200	17	46014271	missense variant	T/G	snv			8
rs63750570	MAPT	0.827	0.120	17	46018629	missense variant	G/A	snv			8
rs63750416	MAPT	0.851	0.120	17	46010373	missense variant	A/C	snv			7
rs63750573	MAPT	0.882	0.120	17	46018627	missense variant	A/G	snv			3
rs63750905	MAPT	0.882	0.120	17	46018624	missense variant	G/T	snv			3