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
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
rs75932628	LOC105375056 ; TREM2	0.662	0.480	6	41161514	missense variant	C/A;T	snv	6.8E-05; 2.6E-03		28
rs200161705	NEK1	0.882	0.160	4	169585374	missense variant	C/A;T	snv	6.0E-05; 2.3E-03		5
rs759504704	NARS2	0.882	0.200	11	78436786	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10
rs121912432	SOD1	0.925	0.080	21	31663832	missense variant	C/G	snv	4.0E-06		3
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs72824905	PLCG2	0.827	0.200	16	81908423	missense variant	C/G;T	snv	5.2E-03		6
rs2435211	MAPT			17	45985878	intron variant	C/G;T	snv			1
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
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
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
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs398122403	SYNJ1	0.807	0.080	21	32695106	missense variant	C/T	snv	1.2E-05		11
rs431905511	SNCA	0.827	0.080	4	89828154	missense variant	C/T	snv			9
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs63751294	GRN	0.827	0.120	17	44352404	stop gained	C/T	snv	8.0E-06		6
rs766001707	ATXN3	0.851	0.200	14	92096772	missense variant	C/T	snv			6
rs66468541	HSPD1	0.925	0.080	2	197497275	missense variant	C/T	snv			4
rs1272951905	MTHFSD	0.925	0.160	16	86532210	missense variant	C/T	snv		2.1E-05	3