DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Nystagmus

Source: INFERRED ×

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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
rs1114167290	MYO5A	0.882	0.080	15	52340235	missense variant	G/C	snv			5
rs1555975523	CASK	0.851	0.200	X	41534892	splice donor variant	C/AT	delins			5
rs1114167292	RUBCN	0.882	0.080	3	197704686	missense variant	C/T	snv		1.4E-05	6
rs767982852	RUBCN	0.882	0.080	3	197694417	missense variant	T/C	snv	8.0E-06	4.9E-05	6
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv			7
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
rs138504221	SGSH	0.807	0.280	17	80212128	missense variant	A/G	snv	9.6E-05	1.5E-04	9
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	9
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			13
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	25
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs61816761	FLG ; FLG-AS1	0.658	0.640	1	152313385	stop gained	G/A;T	snv	9.4E-03; 8.0E-06		28
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35