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	Num. diseases
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins		16
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del		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
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
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
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del		11
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04	9
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins		9
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05	9
rs61754381	LOC107984363 ; TYR	0.790	0.200	11	89227816	splice region variant	T/A;C	snv	9.5E-04; 8.0E-06	8
rs752914124	SGSH	0.827	0.280	17	80210679	stop gained	GGAGGTCCTTG/-	del		8
rs770703007	MAPK8IP3	0.851	0.120	16	1706450	stop gained	C/G;T	snv	4.0E-06	8
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins		7
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv		7
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv		6
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins		6
rs757788894	CLCN7	0.882	0.120	16	1449081	missense variant	C/T	snv	4.0E-06	6
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv		5
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06	5
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