DisGeNET - a database of gene-disease associations

List of associated variants

AMYOTROPHIC LATERAL SCLEROSIS 1, C1862939

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
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs1475170339	IGFALS ; SPSB3	0.732	0.240	16	1792325	missense variant	T/C;G	snv			18
rs80265967	SOD1	0.732	0.200	21	31667290	missense variant	A/C;T	snv	1.4E-03	1.2E-03	16
rs121912443	SOD1	0.732	0.160	21	31663857	missense variant	A/G	snv			15
rs74315431	VAPB	0.732	0.080	20	58418318	missense variant	C/T	snv	4.0E-06		15
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs121912431	SOD1	0.742	0.160	21	31663829	missense variant	G/A;C	snv			11
rs3849942	C9orf72 ; LOC107987057	0.776	0.200	9	27543283	non coding transcript exon variant	T/A;C	snv			9
rs121909668	FUS	0.790	0.120	16	31191418	missense variant	C/A;G;T	snv	1.2E-05		8
rs121912433	SOD1	0.827	0.120	21	31663841	missense variant	G/A	snv	4.0E-06		7
rs121912436	SOD1	0.827	0.080	21	31667274	missense variant	G/A;C	snv			7
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs121912452	SOD1	0.807	0.120	21	31667271	missense variant	T/C;G	snv	4.0E-06		6
rs121912456	SOD1 ; LOC102724449	0.851	0.120	21	31659806	missense variant	G/C	snv			6
rs4987023	SOD2	0.807	0.120	6	159692661	missense variant	C/T	snv		7.0E-06	6
rs3849943	C9orf72 ; LOC107987057	0.827	0.080	9	27543384	non coding transcript exon variant	C/G;T	snv			5
rs2412208	CAMTA1	0.827	0.080	1	7032722	intron variant	T/G	snv		0.33	5
rs121909342	DCTN1	0.827	0.200	2	74378104	missense variant	C/G;T	snv			5
rs757200716	ESR1	0.851	0.160	6	151842617	missense variant	G/A	snv	8.0E-06		5
rs886041390	FUS	0.827	0.080	16	31191431	missense variant	C/T	snv	4.0E-06		5
rs139550538	IDE	0.827	0.080	10	92524312	intron variant	T/A	snv		1.9E-02	5
rs34517613	KRT18P55	0.827	0.080	17	28283226	intron variant	C/T	snv		9.1E-02	5
rs616147	MOBP	0.827	0.080	3	39492990	intron variant	A/G	snv		0.76	5
rs35714695	SARM1	0.827	0.080	17	28392769	intron variant	G/A;T	snv		0.12	5
rs121912437	SOD1	0.851	0.080	21	31667298	missense variant	G/A;C;T	snv			5