DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Primary biliary cirrhosis ×

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
rs919462	MAPT	0.807	0.120	17	45988374	intron variant	C/T	snv		0.15	6
rs8070723	MAPT	0.851	0.240	17	46003698	intron variant	A/G	snv		0.18	3
rs17564829	LOC105371800 ; MAPT	1.000	0.080	17	45929235	intron variant	T/C	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