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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs80338902	USH2A	0.790	0.200	1	216247118	missense variant	C/A	snv	9.7E-04	1.3E-03	10
rs768435443	ABCA4	0.807	0.080	1	94055128	missense variant	A/G	snv	4.0E-06		8
rs201471607	ABCA4	0.851	0.080	1	94046943	missense variant	T/C	snv	1.4E-04	7.7E-05	7
rs1057518955	ABCA4	1.000	0.120	1	94019602	frameshift variant	-/C	delins	4.1E-06		2
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			15
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs104893768	RHO	0.807	0.080	3	129528801	missense variant	C/A	snv			11
rs137853006	PROM1	0.776	0.080	4	16013299	missense variant	G/A	snv			11
rs1800592		0.807	0.200	4	140572807	upstream gene variant	T/C	snv		0.40	8
rs773223321	MMRN1			4	89935190	missense variant	G/A	snv	1.6E-05		1
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	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
rs375090109	PRPH2			6	42722120	missense variant	C/A;G	snv	4.0E-06; 2.4E-05		1
rs735286	VEGFA			6	43776884	non coding transcript exon variant	C/T	snv		0.23	1
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157