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
rs80338902	USH2A	0.790	0.200	1	216247118	missense variant	C/A	snv	9.7E-04	1.3E-03	10
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs2146323	VEGFA	0.752	0.480	6	43777358	non coding transcript exon variant	C/A	snv		0.31	13
rs735286	VEGFA			6	43776884	non coding transcript exon variant	C/T	snv		0.23	1