DisGeNET - a database of gene-disease associations

List of associated variants

Spinal Muscular Atrophy, C0026847

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
rs74315431	VAPB	0.732	0.080	20	58418318	missense variant	C/T	snv	4.0E-06		15
rs387907196	EXOSC3	0.807	0.080	9	37784953	missense variant	C/G	snv	2.0E-05		12
rs730880031	CHCHD10 ; LOC107985577	0.807	0.160	22	23767438	missense variant	C/A;T	snv	1.8E-05; 4.4E-06		7
rs770905160	DYSF	0.882	0.120	2	71656236	stop gained	C/G;T	snv	1.2E-05		5
rs765672269	SPSB3 ; IGFALS	0.851	0.120	16	1792338	stop gained	C/A	snv		7.0E-06	5
rs145873635	ASAH1	0.851	0.160	8	18075541	missense variant	G/A	snv	1.2E-05	3.5E-05	4
rs746361190	CNTNAP1	0.882	0.120	17	42691905	missense variant	C/A	snv	4.0E-06		4
rs75586164	SMN2	0.925	0.080	5	70070651	missense variant	C/T	snv	1.3E-04		4
rs137853063	VRK1	0.882	0.080	14	96876033	stop gained	C/G;T	snv	6.4E-05; 4.0E-06		4
rs868010710	VRK1	0.851	0.080	14	96833502	missense variant	A/G	snv			4
rs763459583	MAPT	0.882	0.080	17	45987045	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		3
rs104893922	SMN1 ; SMN2	0.925	0.080	5	70946157	missense variant	A/G	snv			3
rs121909192	SMN2	0.925	0.080	5	70076545	missense variant	G/C	snv	3.3E-03	2.2E-03	3
rs104893935	SMN2 ; SMN1	0.882	0.080	5	70942416	missense variant	C/G	snv			3
rs1170466474	SMN2 ; SMN1	1.000	0.040	5	70925180	missense variant	G/A	snv	8.2E-05		3
rs141760116	SMN2 ; SMN1	0.925	0.080	5	70951939	splice acceptor variant	A/C;G;T	snv	4.0E-06		3
rs77804083	SMN2 ; SMN1	0.882	0.080	5	70942389	stop gained	G/A	snv			3
rs371707778	BICD2	0.925	0.040	9	92717947	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs398123029	BICD2	0.925	0.040	9	92722699	missense variant	T/G	snv			2
rs1171108843	CDCA5	0.925	0.040	11	65079421	stop lost	T/C	snv			2
rs713993043	DYNC1H1	0.925	0.080	14	101980380	missense variant	G/A;T	snv			2
rs794727634	DYNC1H1	0.925	0.040	14	101979952	missense variant	G/A	snv			2
rs1266703941	EXOSC8	0.925	0.080	13	37002522	missense variant	G/A;C	snv	8.2E-06; 4.1E-06		2
rs199714029	FCN2	0.925	0.040	9	134886483	missense variant	G/A	snv			2
rs80356547	LOC105373194 ; INE1 ; UBA1	0.925	0.120	X	47206103	synonymous variant	C/T	snv			2