DisGeNET - a database of gene-disease associations

Source: GWASDB

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
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	1
rs2435200	MAPT	0.925	0.080	17	45994485	intron variant	G/A	snv		0.40	1
rs9468	MAPT	0.882	0.080	17	46024197	3 prime UTR variant	T/C	snv	0.15	0.14	1
rs7521	MAPT ; KANSL1	0.925	0.080	17	46028029	3 prime UTR variant	A/C;G	snv			1
rs4792891	MAPT ; MAPT-AS1 ; MAPT-IT1	1.000	0.040	17	45896132	non coding transcript exon variant	T/G	snv		0.30	1