DisGeNET - a database of gene-disease associations

List of associated variants

Nystagmus, C0028738

Source: ALL

Results per page

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
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv			5
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs137853105	MKS1	0.882	0.160	17	58206479	missense variant	A/C	snv	5.6E-05	2.8E-05	4
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6
rs886039809	KIAA0586	0.807	0.480	14	58498824	frameshift variant	A/-	del			11
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05		9
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs121907986	HEXB	0.882	0.160	5	74713584	stop gained	C/T	snv	2.8E-05	1.4E-05	3
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs552184470	GUCY2D	1.000	0.080	17	8003171	inframe deletion	TCTGCT/-	delins	1.8E-03	1.9E-03	2
rs752914124	SGSH	0.827	0.280	17	80210679	stop gained	GGAGGTCCTTG/-	del			8
rs138504221	SGSH	0.807	0.280	17	80212128	missense variant	A/G	snv	9.6E-05	1.5E-04	9
rs775796581	CNGB3	0.851	0.120	8	86666951	frameshift variant	AGTCTGGG/-	delins	5.2E-05	7.0E-05	5
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19