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
rs104893768	RHO	0.807	0.080	3	129528801	missense variant	C/A	snv			11
rs104893875	SNCA	0.742	0.120	4	89828170	missense variant	C/T	snv	4.0E-06		13
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs104893878	SNCA ; SNCA-AS1	0.732	0.160	4	89835580	missense variant	C/G	snv			21
rs104893922	SMN1 ; SMN2	0.925	0.080	5	70946157	missense variant	A/G	snv			3
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs1049564	PNP	0.882	0.160	14	20472447	missense variant	G/A	snv	0.19	0.21	6
rs1052553	MAPT	0.827	0.200	17	45996523	synonymous variant	A/G	snv	0.14	0.15	8
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs121909715	GSN	0.790	0.160	9	121310819	missense variant	G/A;T	snv	4.0E-06		8
rs121912432	SOD1	0.925	0.080	21	31663832	missense variant	C/G	snv	4.0E-06		3
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
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
rs1264519280	KHDRBS1	1.000	0.040	1	32014083	missense variant	G/A	snv			2
rs1265011107	WDTC1	1.000	0.080	1	27283372	missense variant	A/G	snv	4.0E-06		3
rs1272951905	MTHFSD	0.925	0.160	16	86532210	missense variant	C/T	snv		2.1E-05	3
rs1360444859	SPSB3 ; IGFALS	1.000	0.080	16	1791721	missense variant	T/C	snv	1.2E-05		2
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10