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
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs2279238	NR1H3	0.790	0.320	11	47260473	missense variant	C/T	snv	0.26	0.26	11
rs121912431	SOD1	0.742	0.160	21	31663829	missense variant	G/A;C	snv			11
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs121909330	VCP	0.752	0.200	9	35065364	missense variant	G/A;C;T	snv			11
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10
rs121909334	VCP	0.752	0.200	9	35065255	missense variant	C/T	snv	1.6E-05		10
rs267606673	ATP7A ; PGK1	0.776	0.240	X	78029314	missense variant	C/T	snv			9
rs3849942	C9orf72 ; LOC107987057	0.776	0.200	9	27543283	non coding transcript exon variant	T/A;C	snv			9
rs104893941	MRNIP ; SQSTM1	0.776	0.200	5	179836445	missense variant	C/T	snv	9.8E-04	1.3E-03	9
rs387906709	UBQLN2	0.776	0.120	X	56565363	missense variant	C/A;T	snv			9
rs121909335	VCP	0.776	0.200	9	35065351	missense variant	C/T	snv	8.0E-06		9
rs121909668	FUS	0.790	0.120	16	31191418	missense variant	C/A;G;T	snv	1.2E-05		8
rs1800435	ALAD	0.827	0.200	9	113391611	missense variant	C/G	snv	8.3E-02	6.1E-02	7
rs730880031	CHCHD10 ; LOC107985577	0.807	0.160	22	23767438	missense variant	C/A;T	snv	1.8E-05; 4.4E-06		7
rs761051758	HSPB1	0.827	0.160	7	76302805	synonymous variant	G/A	snv	8.5E-06		7
rs745805222	IGF1	0.790	0.120	12	102475722	synonymous variant	C/T	snv	1.2E-05	4.9E-05	7
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
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
rs80356730	TARDBP	0.807	0.120	1	11022418	missense variant	A/G	snv	8.0E-06		7
rs80356733	TARDBP	0.790	0.200	1	11022451	missense variant	G/T	snv			7
rs142444896	CHCHD2	0.807	0.120	7	56106409	missense variant	G/A	snv	9.3E-03	7.5E-03	6