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
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs778361520	ADGRB2	0.925	0.120	1	31728621	missense variant	G/A	snv	8.0E-06	2.1E-05	9
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs28940893	ARSA	0.827	0.160	22	50625392	missense variant	G/A	snv	3.9E-04	3.6E-04	6
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs1555975523	CASK	0.851	0.200	X	41534892	splice donor variant	C/AT	delins			5
rs398122845	CASK	1.000	0.080	X	41524036	splice acceptor variant	T/A;C	snv			2
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs1057518822	CEP290	1.000	0.080	12	88102888	stop gained	G/A	snv			4
rs757788894	CLCN7	0.882	0.120	16	1449081	missense variant	C/T	snv	4.0E-06		6
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
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
rs765919785	COL18A1 ; MIR6815	0.882	0.080	21	45477409	splice acceptor variant	A/G	snv	8.2E-06	2.8E-05	4
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs137852212	FRMD7	0.925	0.120	X	132084546	missense variant	G/A;C	snv			2
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53