DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Parkinson Disease ×

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
rs8070723	MAPT	0.851	0.240	17	46003698	intron variant	A/G	snv		0.18	3
rs1991556	MAPT	1.000	0.040	17	46006036	intron variant	G/A	snv		0.14	2
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	2
rs2435200	MAPT	0.925	0.080	17	45994485	intron variant	G/A	snv		0.40	2
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	1
rs17563986	MAPT	1.000	0.040	17	45913906	intron variant	A/G	snv		0.14	1
rs17649553	MAPT	0.882	0.160	17	45917282	intron variant	C/T	snv		0.14	1
rs1864325	MAPT	0.882	0.160	17	45900461	intron variant	C/T	snv		0.14	1
rs1981997	MAPT	1.000	0.040	17	45979401	non coding transcript exon variant	G/A	snv		0.14	1
rs242562	MAPT	1.000	0.040	17	45949373	intron variant	G/A	snv		0.35	1
rs3785880	MAPT	1.000	0.040	17	45916010	intron variant	T/G	snv		0.40	1
rs2471738	STH ; MAPT	0.882	0.160	17	45998697	intron variant	C/T	snv		0.18	1