DisGeNET - a database of gene-disease associations

List of associated variants

Nystagmus, C0028738

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
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv			5
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs770703007	MAPK8IP3	0.851	0.120	16	1706450	stop gained	C/G;T	snv	4.0E-06		8
rs757788894	CLCN7	0.882	0.120	16	1449081	missense variant	C/T	snv	4.0E-06		6
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	5
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5
rs72547551	SPG7	0.882	0.160	16	89550545	missense variant	C/T	snv	3.6E-05	1.5E-04	5
rs748309520	SPG7	0.882	0.160	16	89531903	splice acceptor variant	G/A	snv	1.6E-05	7.0E-06	5
rs752989523	SPG7	0.882	0.160	16	89553853	stop gained	G/A;C	snv	8.0E-06		5
rs879253797	SPG7	0.882	0.160	16	89556954	missense variant	C/T	snv		1.4E-05	5