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
rs767982852	RUBCN	0.882	0.080	3	197694417	missense variant	T/C	snv	8.0E-06	4.9E-05	6
rs1114167292	RUBCN	0.882	0.080	3	197704686	missense variant	C/T	snv		1.4E-05	6
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
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
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs778361520	ADGRB2	0.925	0.120	1	31728621	missense variant	G/A	snv	8.0E-06	2.1E-05	9
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs398122845	CASK	1.000	0.080	X	41524036	splice acceptor variant	T/A;C	snv			2
rs1555975523	CASK	0.851	0.200	X	41534892	splice donor variant	C/AT	delins			5
rs786205579	PRPH2	0.925	0.120	6	42721838	missense variant	C/T	snv			2
rs61755771	PRPH2	0.827	0.160	6	42722199	stop gained	G/A	snv	1.6E-05	1.4E-05	5
rs1057518836	NDP ; NDP-AS1	0.882	0.120	X	43949887	missense variant	G/A	snv			4
rs765919785	COL18A1 ; MIR6815	0.882	0.080	21	45477409	splice acceptor variant	A/G	snv	8.2E-06	2.8E-05	4
rs1057518802	SLC19A1 ; COL18A1	0.882	0.080	21	45509554	stop gained	C/T	snv			4
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs1384483492	PRPH ; LOC101927267	0.925	0.120	12	49295697	missense variant	A/G	snv		1.4E-05	2
rs28940893	ARSA	0.827	0.160	22	50625392	missense variant	G/A	snv	3.9E-04	3.6E-04	6
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37