DisGeNET - a database of gene-disease associations

List of shared variants

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, C3542025

Disease: Amyotrophic Lateral Sclerosis, Sporadic

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
rs80265967	SOD1	0.732	0.200	21	31667290	missense variant	A/C;T	snv	1.4E-03	1.2E-03	16
rs3849942	C9orf72 ; LOC107987057	0.776	0.200	9	27543283	non coding transcript exon variant	T/A;C	snv			9
rs12608932	UNC13A	0.827	0.080	19	17641880	intron variant	A/C	snv		0.36	5
rs139550538	IDE	0.827	0.080	10	92524312	intron variant	T/A	snv		1.9E-02	5
rs2412208	CAMTA1	0.827	0.080	1	7032722	intron variant	T/G	snv		0.33	5
rs34517613	KRT18P55	0.827	0.080	17	28283226	intron variant	C/T	snv		9.1E-02	5
rs35714695	SARM1	0.827	0.080	17	28392769	intron variant	G/A;T	snv		0.12	5
rs3849943	C9orf72 ; LOC107987057	0.827	0.080	9	27543384	non coding transcript exon variant	C/G;T	snv			5
rs616147	MOBP	0.827	0.080	3	39492990	intron variant	A/G	snv		0.76	5
rs1002442	ANK3	0.851	0.080	10	60043304	non coding transcript exon variant	T/G	snv		0.14	4
rs10029851		0.851	0.080	4	108706869	intergenic variant	A/C;T	snv			4
rs10145110	MEG8	0.851	0.080	14	101008533	intron variant	C/T	snv		9.7E-02	4
rs11061269	ADGRD1	0.851	0.080	12	130971904	intron variant	G/A	snv		7.5E-02	4
rs115134572	SLC9A9	0.851	0.080	3	143629403	intron variant	A/G	snv		2.0E-02	4
rs11590421	LOC105378658	0.851	0.080	1	38528443	intergenic variant	G/A	snv		0.15	4
rs11744876	CTNND2	0.851	0.080	5	11084600	intron variant	G/A	snv		7.8E-02	4
rs11987758	LOC105377781	0.851	0.080	8	2180583	regulatory region variant	G/A	snv		0.12	4
rs12891047	ZFYVE26	0.851	0.080	14	67776358	intron variant	C/A	snv		0.62	4
rs13100616	KCNMB2-AS1 ; KCNMB2	0.851	0.080	3	178681763	intron variant	A/G	snv		0.33	4
rs1400816	SLC25A12	0.851	0.080	2	171824168	intron variant	A/C	snv		0.81	4
rs1464443	ERBB4	0.851	0.080	2	212050001	intron variant	C/A;T	snv			4
rs1559473		0.851	0.080	2	222016799	intergenic variant	T/G	snv		0.25	4
rs1605070		0.851	0.080	3	51882999	intergenic variant	C/A	snv		0.60	4
rs16938145		0.851	0.080	9	2256092	intergenic variant	T/C;G	snv			4
rs16975050		0.851	0.080	18	41607206	intron variant	T/G	snv		7.0E-02	4