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
rs142248415	MANBA	1.000	0.080	4	102634957	missense variant	A/G;T	snv	4.0E-06; 2.1E-03	7.5E-04	1
rs781584789	MANBA	1.000	0.080	4	102639814	missense variant	C/T	snv	8.8E-05	1.1E-04	1
rs398122845	CASK	1.000	0.080	X	41524036	splice acceptor variant	T/A;C	snv			2
rs137852212	FRMD7	0.925	0.120	X	132084546	missense variant	G/A;C	snv			2
rs552184470	GUCY2D	1.000	0.080	17	8003171	inframe deletion	TCTGCT/-	delins	1.8E-03	1.9E-03	2
rs786205579	PRPH2	0.925	0.120	6	42721838	missense variant	C/T	snv			2
rs1384483492	PRPH ; LOC101927267	0.925	0.120	12	49295697	missense variant	A/G	snv		1.4E-05	2
rs1057518787	GPR143	0.925	0.200	X	9765782	frameshift variant	CAGCAGAAGGTCCCTAGGCGCGGGG/-	delins			3
rs121907986	HEXB	0.882	0.160	5	74713584	stop gained	C/T	snv	2.8E-05	1.4E-05	3
rs121434621	OPN1LW	0.882	0.120	X	154154602	missense variant	T/C	snv			3
rs746681765	SLC25A46	0.882	0.080	5	110761543	missense variant	C/A;T	snv	2.8E-05		3
rs1057518822	CEP290	1.000	0.080	12	88102888	stop gained	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
rs137853105	MKS1	0.882	0.160	17	58206479	missense variant	A/C	snv	5.6E-05	2.8E-05	4
rs1057518836	NDP ; NDP-AS1	0.882	0.120	X	43949887	missense variant	G/A	snv			4
rs104894914	OPN1MW	0.851	0.120	X	154191716	missense variant	T/C	snv			4
rs1057518802	SLC19A1 ; COL18A1	0.882	0.080	21	45509554	stop gained	C/T	snv			4
rs1554558365	TMEM67	0.925	0.120	8	93804851	inframe insertion	-/TATGAA	delins			4
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
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv			5
rs61755771	PRPH2	0.827	0.160	6	42722199	stop gained	G/A	snv	1.6E-05	1.4E-05	5
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	5
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5