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
rs148156462	COQ2	0.925	0.080	4	83264287	missense variant	A/G	snv	4.2E-03	1.6E-03	3
rs770237371	ASPSCR1	0.827	0.160	17	81996616	missense variant	A/C;G	snv	4.0E-06; 1.2E-05		5
rs876016	P4HB	0.925	0.080	17	81852587	intron variant	A/G	snv		0.23	2
rs2070872	P4HB	0.925	0.080	17	81846845	intron variant	A/G	snv		0.26	2
rs8324	P4HB	1.000	0.080	17	81843412	3 prime UTR variant	C/A;G	snv		0.19	1
rs775085447	PTBP1	1.000	0.080	19	808428	missense variant	G/A;T	snv	1.7E-05		1
rs7000234		1.000	0.080	8	80624879	downstream gene variant	G/A	snv		0.10	1
rs1406023293	PTBP1	1.000	0.080	19	805563	missense variant	G/A	snv	4.0E-06		1
rs1247392012	ANXA11	0.925	0.080	10	80170852	missense variant	T/C	snv	1.1E-05		2
rs138498280	PPIF	1.000	0.080	10	79349713	missense variant	G/C;T	snv	1.1E-04		1
rs1428760461	PPIF	1.000	0.080	10	79349712	frameshift variant	G/-	delins	4.0E-06	7.0E-06	1
rs267606673	ATP7A ; PGK1	0.776	0.240	X	78029314	missense variant	C/T	snv			9
rs3733242	LOC105377289 ; SHROOM3	1.000	0.080	4	76754352	missense variant	C/A;T	snv	2.4E-05; 0.46		1
rs781860006	MAGEE1	1.000	0.080	X	76428205	missense variant	G/C	snv			1
rs761051758	HSPB1	0.827	0.160	7	76302805	synonymous variant	G/A	snv	8.5E-06		7
rs5937496		1.000	0.080	X	76127599	regulatory region variant	G/A	snv		0.16	1
rs957950902	CRYZ	1.000	0.080	1	74724729	synonymous variant	C/T	snv	4.1E-06	2.1E-05	1
rs12993079	DCTN1	1.000	0.080	2	74371100	missense variant	T/G	snv			1
rs121909344	DCTN1	0.925	0.080	2	74366896	missense variant	G/A;C	snv	1.9E-04		2
rs121909345	DCTN1	0.882	0.120	2	74363337	missense variant	C/T	snv	2.8E-05	2.1E-05	4
rs531642849	PML	1.000	0.080	15	73998152	missense variant	C/A;G;T	snv	4.0E-06; 8.0E-06		1
rs770678026	ALB	1.000	0.080	4	73413430	missense variant	C/G	snv	1.2E-05	7.0E-06	1
rs63751024	PSEN1	0.851	0.120	14	73192793	missense variant	T/C	snv			4
rs63750730	PSEN1	0.827	0.120	14	73173574	missense variant	C/T	snv			6
rs140189461	PSEN1	1.000	0.080	14	73170833	missense variant	C/G;T	snv	1.2E-05; 1.6E-05		1