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
rs1265011107	WDTC1	1.000	0.080	1	27283372	missense variant	A/G	snv	4.0E-06		3
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs267606900	MTPAP	1.000		10	30313926	missense variant	T/C	snv		1.4E-05	2
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs121912432	SOD1	0.925	0.080	21	31663832	missense variant	C/G	snv	4.0E-06		3
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs1264519280	KHDRBS1	1.000	0.040	1	32014083	missense variant	G/A	snv			2
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs397515634	UCHL1-AS1 ; UCHL1	0.925	0.040	4	41256996	missense variant	A/C	snv	4.0E-06		3
rs5030732	UCHL1 ; UCHL1-AS1	0.790	0.160	4	41257616	missense variant	C/A	snv	0.24	0.16	10
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
rs63751177	GRN	1.000	0.120	17	44351438	stop gained	G/A	snv			2
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs5848	FAM171A2 ; GRN	0.708	0.120	17	44352876	3 prime UTR variant	C/T	snv		0.41	17
rs2435211	MAPT			17	45985878	intron variant	C/G;T	snv			1
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs2435200	MAPT	0.925	0.080	17	45994485	intron variant	G/A	snv		0.40	5