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
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
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
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs28940881	LOC107984363 ; TYR	0.776	0.200	11	89177954	start lost	A/G	snv	6.4E-05	5.6E-05	16
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	11
rs142285818	RHO	0.807	0.120	3	129532727	missense variant	C/G;T	snv	9.7E-04	4.1E-04	11
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs778361520	ADGRB2	0.925	0.120	1	31728621	missense variant	G/A	snv	8.0E-06	2.1E-05	9
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9