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
rs1427575965	C2orf42 ; TIA1	0.925	0.120	2	70212796	missense variant	G/A	snv	8.0E-06		3
rs121909344	DCTN1	0.925	0.080	2	74366896	missense variant	G/A;C	snv	1.9E-04		2
rs1251696640	TIA1 ; C2orf42	0.925	0.120	2	70212763	missense variant	T/C;G	snv			2
rs1307751766	EPHA4	0.925	0.080	2	221564258	missense variant	A/G	snv		7.0E-06	2
rs1445888481	IL1B	0.925	0.080	2	112835572	synonymous variant	C/T	snv		7.0E-06	2
rs757332023	C2orf42 ; TIA1	0.925	0.120	2	70212795	missense variant	G/A	snv	2.0E-05		2
rs115796194	IL1R1	1.000	0.080	2	102171877	synonymous variant	A/G	snv	1.1E-03	5.4E-03	1
rs1181875747	POMC	1.000	0.080	2	25161629	stop gained	G/A;C;T	snv	6.7E-06; 1.3E-05		1
rs12618157	NRXN1	1.000	0.080	2	50709898	intron variant	A/G	snv		0.54	1
rs12993079	DCTN1	1.000	0.080	2	74371100	missense variant	T/G	snv			1
rs1355281868	C2orf42 ; TIA1	1.000	0.080	2	70214484	missense variant	A/G	snv			1
rs1358472046	XDH	1.000	0.080	2	31405914	synonymous variant	T/C	snv	1.2E-05	1.4E-05	1
rs1380437028	IL1RN	1.000	0.080	2	113132708	missense variant	C/G	snv		7.0E-06	1
rs1434704960	NFE2L2	1.000	0.080	2	177231543	missense variant	C/T	snv			1
rs150614530	LINC02245 ; LOC107984063 ; SLC1A4	1.000	0.080	2	65018205	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		1
rs16984239	KCNS3	1.000	0.080	2	18053180	intron variant	C/A	snv		0.14	1
rs2303565	STK36	1.000	0.080	2	218680586	intron variant	T/C	snv	0.43	0.56	1
rs553062694	CXCR4	1.000	0.080	2	136116611	intron variant	C/T	snv		6.7E-04	1
rs7577894		1.000	0.080	2	55781769	regulatory region variant	T/C;G	snv			1
rs764117967	RMDN2-AS1 ; RMDN2	1.000	0.080	2	37991254	missense variant	A/G	snv	4.1E-06		1
rs772151801	CASP8	1.000	0.080	2	201266579	synonymous variant	G/A;T	snv	4.0E-06		1
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	48
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs616147	MOBP	0.827	0.080	3	39492990	intron variant	A/G	snv		0.76	5
rs1239669755	IQCG ; LMLN	0.851	0.080	3	197960384	missense variant	C/T	snv			4