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
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
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
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs1799990	PRNP	0.683	0.440	20	4699605	missense variant	A/G	snv	0.31	0.33	23
rs74315408	PRNP	0.752	0.280	20	4699758	missense variant	G/A	snv	6.4E-05	4.2E-05	16
rs1178466848	PRNP	0.925	0.120	20	4699785	missense variant	G/A	snv		2.8E-05	4
rs2275294	ZNF512B	0.925	0.080	20	63962894	intron variant	G/A	snv		0.25	3
rs387907043	DNAJC5	0.925	0.120	20	63930873	missense variant	T/A;G	snv	4.0E-06		3
rs149215094	VAPB	1.000	0.080	20	58444203	missense variant	G/A	snv	5.6E-05	5.6E-05	2
rs752933837	PRKCG	1.000	0.080	19	53906776	missense variant	C/A	snv	4.0E-06	1.4E-05	2
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs63750756	MAPT	0.716	0.200	17	46010324	missense variant	T/G	snv	2.6E-05		23
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs5848	FAM171A2 ; GRN	0.708	0.120	17	44352876	3 prime UTR variant	C/T	snv		0.41	17
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
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
rs63750376	MAPT	0.827	0.120	17	45996657	missense variant	G/T	snv			7
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs63750869	MAPT	0.827	0.160	17	46018707	missense variant	G/A	snv	2.4E-05	5.6E-05	6
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs9468	MAPT	0.882	0.080	17	46024197	3 prime UTR variant	T/C	snv	0.15	0.14	6