DisGeNET - a database of gene-disease associations

List of associated variants

Retinal Diseases, C0035309

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
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs137853298	SYN3 ; TIMP3	0.925	0.080	22	32859351	missense variant	A/T	snv			3
rs62638634	RPGR	0.925	0.080	X	38322921	missense variant	C/A	snv			4
rs774038422	ERG	1.000	0.080	21	38391009	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs763544450	ERG	1.000	0.080	21	38445560	missense variant	T/G	snv	4.0E-06		4
rs375090109	PRPH2			6	42722120	missense variant	C/A;G	snv	4.0E-06; 2.4E-05		1
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs735286	VEGFA			6	43776884	non coding transcript exon variant	C/T	snv		0.23	1
rs2146323	VEGFA	0.752	0.480	6	43777358	non coding transcript exon variant	C/A	snv		0.31	13
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs1282382243	DLEU7-AS1 ; DLEU1 ; DLEU7	0.807	0.120	13	50843630	missense variant	G/A	snv			8
rs3751624	MYO5C	1.000	0.120	15	52282973	intron variant	C/T	snv		0.20	2
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			15
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs121918284	BEST1 ; LOC107984334	0.882	0.080	11	61955892	missense variant	G/A	snv	5.2E-04	3.3E-04	5
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs771676129	CD36	0.827	0.080	7	80671082	synonymous variant	C/T	snv	4.0E-06		7
rs999947969	CD36	0.827	0.080	7	80671145	synonymous variant	C/T	snv			7
rs773223321	MMRN1			4	89935190	missense variant	G/A	snv	1.6E-05		1
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17