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
rs1057518802	SLC19A1 ; COL18A1	0.882	0.080	21	45509554	stop gained	C/T	snv			4
rs1057518836	NDP ; NDP-AS1	0.882	0.120	X	43949887	missense variant	G/A	snv			4
rs137853105	MKS1	0.882	0.160	17	58206479	missense variant	A/C	snv	5.6E-05	2.8E-05	4
rs765919785	COL18A1 ; MIR6815	0.882	0.080	21	45477409	splice acceptor variant	A/G	snv	8.2E-06	2.8E-05	4
rs121434621	OPN1LW	0.882	0.120	X	154154602	missense variant	T/C	snv			3
rs121907986	HEXB	0.882	0.160	5	74713584	stop gained	C/T	snv	2.8E-05	1.4E-05	3
rs746681765	SLC25A46	0.882	0.080	5	110761543	missense variant	C/A;T	snv	2.8E-05		3
rs770703007	MAPK8IP3	0.851	0.120	16	1706450	stop gained	C/G;T	snv	4.0E-06		8
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
rs1555975523	CASK	0.851	0.200	X	41534892	splice donor variant	C/AT	delins			5
rs1558811557	CNGA3	0.851	0.120	2	98377710	frameshift variant	-/TCAGTGCTGCAGCCGGGGATCG	delins			5
rs775796581	CNGB3	0.851	0.120	8	86666951	frameshift variant	AGTCTGGG/-	delins	5.2E-05	7.0E-05	5
rs104894914	OPN1MW	0.851	0.120	X	154191716	missense variant	T/C	snv			4
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs752914124	SGSH	0.827	0.280	17	80210679	stop gained	GGAGGTCCTTG/-	del			8
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6
rs28940893	ARSA	0.827	0.160	22	50625392	missense variant	G/A	snv	3.9E-04	3.6E-04	6
rs61755771	PRPH2	0.827	0.160	6	42722199	stop gained	G/A	snv	1.6E-05	1.4E-05	5
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs142285818	RHO	0.807	0.120	3	129532727	missense variant	C/G;T	snv	9.7E-04	4.1E-04	11
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11