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
rs1864325	MAPT	0.882	0.160	17	45900461	intron variant	C/T	snv		0.14	5
rs8070723	MAPT	0.851	0.240	17	46003698	intron variant	A/G	snv		0.18	5
rs17651549	MAPT	0.882	0.160	17	45983912	missense variant	C/T	snv	0.15	0.14	4
rs17574228	KANSL1 ; MAPT	0.925	0.120	17	46027143	3 prime UTR variant	T/C	snv		0.14	3
rs10445337	MAPT	0.925	0.120	17	45990034	missense variant	T/C	snv	0.15	0.15	3
rs1052587	MAPT	0.925	0.120	17	46025238	3 prime UTR variant	T/C	snv		0.14	3
rs17563986	MAPT	1.000	0.040	17	45913906	intron variant	A/G	snv		0.14	3
rs17650901	MAPT	0.925	0.120	17	45962325	5 prime UTR variant	A/G	snv	0.14	0.14	3
rs17652121	MAPT	0.925	0.120	17	45996607	synonymous variant	T/C	snv	0.14	0.15	3
rs1800547	MAPT	0.925	0.120	17	45974480	non coding transcript exon variant	A/G	snv	0.15	0.14	3
rs1981997	MAPT	1.000	0.040	17	45979401	non coding transcript exon variant	G/A	snv		0.14	3
rs767057	MAPT ; LOC105371800	0.925	0.120	17	45921456	intron variant	A/G	snv		0.14	3
rs1078268	STH ; MAPT	0.925	0.120	17	45998535	intron variant	A/G	snv		0.15	3
rs17564983	LOC105371800 ; MAPT	1.000	0.040	17	45934459	intron variant	A/C	snv		0.14	2
rs10445338	MAPT	1.000	0.040	17	45990316	intron variant	G/A	snv		0.15	2
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	2
rs17573175	MAPT	1.000	0.040	17	45993723	intron variant	C/G;T	snv			2
rs17649553	MAPT	0.882	0.160	17	45917282	intron variant	C/T	snv		0.14	2
rs1991556	MAPT	1.000	0.040	17	46006036	intron variant	G/A	snv		0.14	2
rs17770343	MAPT-AS1 ; MAPT	1.000	0.040	17	45892788	intron variant	T/C	snv		0.14	2
rs17649641	MAPT ; LOC105371800	0.925	0.120	17	45920006	intron variant	T/C	snv		0.14	2
rs17691610	MAPT ; MAPT-AS1	1.000	0.040	17	45893296	intron variant	G/T	snv		0.14	2
rs62063857	STH ; MAPT	0.882	0.120	17	45999299	missense variant	A/G	snv	0.14	0.15	2
rs1052551	MAPT	1.000	0.040	17	45991558	synonymous variant	G/A;T	snv	0.14; 8.0E-05		1
rs17563965	MAPT	1.000	0.040	17	45913553	intron variant	A/G	snv		0.14	1