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
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs746681765	SLC25A46	0.882	0.080	5	110761543	missense variant	C/A;T	snv	2.8E-05		3
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs142285818	RHO	0.807	0.120	3	129532727	missense variant	C/G;T	snv	9.7E-04	4.1E-04	11
rs137852212	FRMD7	0.925	0.120	X	132084546	missense variant	G/A;C	snv			2
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins			6
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv			7
rs757788894	CLCN7	0.882	0.120	16	1449081	missense variant	C/T	snv	4.0E-06		6
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		43
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs121434621	OPN1LW	0.882	0.120	X	154154602	missense variant	T/C	snv			3
rs104894914	OPN1MW	0.851	0.120	X	154191716	missense variant	T/C	snv			4
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs770703007	MAPK8IP3	0.851	0.120	16	1706450	stop gained	C/G;T	snv	4.0E-06		8
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30