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
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs80356740	TARDBP	1.000		1	11022556	missense variant	A/G	snv	1.7E-05		2
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs771845093	MFN2	0.925	0.160	1	12005903	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs121909715	GSN	0.790	0.160	9	121310819	missense variant	G/A;T	snv	4.0E-06		8
rs3173615	TMEM106B	0.807	0.200	7	12229791	missense variant	C/A;G	snv	0.49		12
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs104893768	RHO	0.807	0.080	3	129528801	missense variant	C/A	snv			11
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs371557337	DCTN4	1.000	0.040	5	150733475	start lost	T/C;G	snv		7.0E-06	2
rs75548401	GBA	0.882	0.160	1	155236246	missense variant	G/A	snv	5.9E-03	6.2E-03	6
rs200161705	NEK1	0.882	0.160	4	169585374	missense variant	C/A;T	snv	6.0E-05; 2.3E-03		5
rs755135182	NFE2L2			2	177231657	missense variant	G/A	snv	4.0E-06		2
rs587778556	NFE2L2			2	177231705	missense variant	G/A	snv	3.2E-05	4.9E-05	2
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
rs66468541	HSPD1	0.925	0.080	2	197497275	missense variant	C/T	snv			4
rs1049564	PNP	0.882	0.160	14	20472447	missense variant	G/A	snv	0.19	0.21	6
rs143061887	PSEN2	0.925	0.080	1	226881960	missense variant	C/T	snv	1.6E-05	5.6E-05	3
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262