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
rs66468541	HSPD1	0.925	0.080	2	197497275	missense variant	C/T	snv			4
rs759504704	NARS2	0.882	0.200	11	78436786	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs1178466848	PRNP	0.925	0.120	20	4699785	missense variant	G/A	snv		2.8E-05	4
rs119467003	TDP1	0.882	0.080	14	89993420	missense variant	A/G	snv		2.1E-05	4
rs2435200	MAPT	0.925	0.080	17	45994485	intron variant	G/A	snv		0.40	5
rs200161705	NEK1	0.882	0.160	4	169585374	missense variant	C/A;T	snv	6.0E-05; 2.3E-03		5
rs766001707	ATXN3	0.851	0.200	14	92096772	missense variant	C/T	snv			6
rs75548401	GBA	0.882	0.160	1	155236246	missense variant	G/A	snv	5.9E-03	6.2E-03	6
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		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
rs9468	MAPT	0.882	0.080	17	46024197	3 prime UTR variant	T/C	snv	0.15	0.14	6
rs72824905	PLCG2	0.827	0.200	16	81908423	missense variant	C/G;T	snv	5.2E-03		6
rs1049564	PNP	0.882	0.160	14	20472447	missense variant	G/A	snv	0.19	0.21	6
rs63751068	PSEN1	0.827	0.120	14	73186920	missense variant	G/C;T	snv			6
rs121917767	UCHL1	0.827	0.120	4	41260751	missense variant	C/A;G;T	snv	4.0E-05; 4.0E-06; 2.0E-05		6
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
rs63750376	MAPT	0.827	0.120	17	45996657	missense variant	G/T	snv			7
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs121909715	GSN	0.790	0.160	9	121310819	missense variant	G/A;T	snv	4.0E-06		8
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	8
rs63750570	MAPT	0.827	0.120	17	46018629	missense variant	G/A	snv			8
rs63750311	PSEN1	0.790	0.240	14	73192647	missense variant	A/C	snv			8