DisGeNET - a database of gene-disease associations

List of associated variants

nervous system disorder, C0027765

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
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1051169	S100B	0.851	0.200	21	46602317	synonymous variant	C/A;G;T	snv	0.65		5
rs1064039	CST3	0.827	0.200	20	23637790	missense variant	C/G;T	snv	0.20		6
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs121434444	KIF5A	0.882	0.160	12	57569648	missense variant	C/T	snv	2.8E-05	7.0E-06	4
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908345	MLC1	0.827	0.240	22	50080391	missense variant	G/A	snv	1.3E-04	6.3E-05	6
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs121913223	DHFR	1.000	0.040	5	80633904	missense variant	T/A	snv	4.0E-06		2
rs121918413	LOC112267935 ; GLRA1	1.000	0.120	5	151851470	missense variant	G/T	snv			3
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1280914556	KHDRBS1			1	32014269	missense variant	A/G	snv		2.1E-05	2
rs1364050643	REEP1	0.851	0.240	2	86232711	missense variant	G/A	snv			5
rs13963	CLEC3B ; EXOSC7			3	45035631	missense variant	G/A	snv	0.49	0.43	1
rs141138948	EXOSC3	0.807	0.120	9	37783993	missense variant	T/C;G	snv	4.1E-04		9
rs1457713736	CTSB			8	11850867	stop gained	C/T	snv		7.0E-06	1
rs1467252662	GLRA1 ; LOC112267935			5	151851530	missense variant	G/T	snv	4.0E-06		2
rs1471980111	DNAH8			6	38737948	missense variant	G/A	snv	4.1E-06	7.0E-06	1
rs1475170339	IGFALS ; SPSB3	0.732	0.240	16	1792325	missense variant	T/C;G	snv			18
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			22
rs1800014	PRNP	0.776	0.200	20	4699875	missense variant	G/A	snv	8.0E-03	2.2E-03	11
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs1805032	CACNB4	1.000	0.040	2	151839238	stop gained	G/A	snv	4.0E-06	7.0E-06	3