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
rs1555975523	CASK	0.851	0.200	X	41534892	splice donor variant	C/AT	delins			5
rs1057518787	GPR143	0.925	0.200	X	9765782	frameshift variant	CAGCAGAAGGTCCCTAGGCGCGGGG/-	delins			3
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
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
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs138504221	SGSH	0.807	0.280	17	80212128	missense variant	A/G	snv	9.6E-05	1.5E-04	9
rs752914124	SGSH	0.827	0.280	17	80210679	stop gained	GGAGGTCCTTG/-	del			8
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv			7
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05		9
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57