DisGeNET - a database of gene-disease associations

List of associated variants

Amyotrophic Lateral Sclerosis, C0002736

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
rs2275294	ZNF512B	0.925	0.080	20	63962894	intron variant	G/A	snv		0.25	3
rs34016896	LOC105374187	0.925	0.080	3	161275076	regulatory region variant	C/T	snv		0.28	3
rs356220	LOC105377329 ; SNCA	0.925	0.080	4	89720189	intron variant	T/A;C	snv			3
rs371030047	FUS	0.882	0.080	16	31183971	missense variant	C/G	snv			3
rs387906829	SIGMAR1	0.882	0.080	9	34637268	missense variant	C/G;T	snv	5.3E-06		3
rs387907266	PFN1	0.882	0.080	17	4945970	missense variant	C/A	snv	4.0E-06		3
rs551521196	LOC107985577 ; CHCHD10	0.882	0.080	22	23767535	missense variant	G/A	snv	2.8E-03	2.3E-03	3
rs772918193	RHOT1	0.882	0.080	17	32208230	missense variant	C/G;T	snv			3
rs776058639	OPTN	0.925	0.080	10	13112564	missense variant	G/A	snv	2.4E-05	1.4E-05	3
rs80356719	TARDBP	0.882	0.080	1	11022268	missense variant	G/A;C	snv	1.6E-05		3
rs80356727	TARDBP	0.925	0.080	1	11022400	missense variant	C/A	snv			3
rs10260404	DPP6	0.925	0.080	7	154513713	intron variant	T/C	snv		0.35	2
rs113247976	KIF5A	1.000	0.080	12	57581917	missense variant	C/G;T	snv	4.0E-06; 1.1E-02		2
rs1162626131	RNF123 ; MST1	0.925	0.080	3	49687855	missense variant	G/A	snv			2
rs1167052126	ZNF629 ; RNF40	0.925	0.080	16	30783980	missense variant	C/G	snv			2
rs11701	RNASE4 ; ANG	0.925	0.080	14	20693894	synonymous variant	T/A;C;G	snv	4.0E-06; 0.14		2
rs121908395	TARDBP	0.925	0.080	1	11022278	missense variant	G/C;T	snv			2
rs121909344	DCTN1	0.925	0.080	2	74366896	missense variant	G/A;C	snv	1.9E-04		2
rs121909669	FUS	0.925	0.080	16	31191410	missense variant	G/A	snv			2
rs121912434	SOD1	0.925	0.080	21	31663842	missense variant	G/A	snv			2
rs121912435	SOD1	0.925	0.080	21	31663848	missense variant	A/G	snv	4.0E-06		2
rs121912448	SOD1 ; LOC102724449	0.925	0.080	21	31659789	missense variant	G/A;T	snv			2
rs121912459	SOD1	0.925	0.080	21	31667307	missense variant	G/A	snv	2.4E-05		2
rs1247392012	ANXA11	0.925	0.080	10	80170852	missense variant	T/C	snv	1.1E-05		2
rs1256045225	PYCARD ; PYCARD-AS1	0.925	0.080	16	31202598	synonymous variant	C/T	snv		7.0E-06	2