DisGeNET - a database of gene-disease associations

List of associated variants

Neurodegenerative Disorders, C0524851

Source: ALL

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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
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs371557337	DCTN4	1.000	0.040	5	150733475	start lost	T/C;G	snv		7.0E-06	2
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
rs9468	MAPT	0.882	0.080	17	46024197	3 prime UTR variant	T/C	snv	0.15	0.14	6
rs1360444859	SPSB3 ; IGFALS	1.000	0.080	16	1791721	missense variant	T/C	snv	1.2E-05		2
rs267606900	MTPAP	1.000		10	30313926	missense variant	T/C	snv		1.4E-05	2
rs387907043	DNAJC5	0.925	0.120	20	63930873	missense variant	T/A;G	snv	4.0E-06		3
rs63750376	MAPT	0.827	0.120	17	45996657	missense variant	G/T	snv			7
rs407135	SLC11A2	0.925	0.120	12	51017570	intron variant	G/T	snv		0.74	3
rs63751068	PSEN1	0.827	0.120	14	73186920	missense variant	G/C;T	snv			6
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs121909715	GSN	0.790	0.160	9	121310819	missense variant	G/A;T	snv	4.0E-06		8
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs63750570	MAPT	0.827	0.120	17	46018629	missense variant	G/A	snv			8
rs1049564	PNP	0.882	0.160	14	20472447	missense variant	G/A	snv	0.19	0.21	6
rs587777606	HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL	0.851	0.160	11	62691300	stop gained	G/A	snv	4.0E-06	7.0E-06	6
rs63750869	MAPT	0.827	0.160	17	46018707	missense variant	G/A	snv	2.4E-05	5.6E-05	6
rs75548401	GBA	0.882	0.160	1	155236246	missense variant	G/A	snv	5.9E-03	6.2E-03	6
rs2435200	MAPT	0.925	0.080	17	45994485	intron variant	G/A	snv		0.40	5