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
rs1800592		0.807	0.200	4	140572807	upstream gene variant	T/C	snv		0.40	8
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
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
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs121918284	BEST1 ; LOC107984334	0.882	0.080	11	61955892	missense variant	G/A	snv	5.2E-04	3.3E-04	5
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
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1249719	COL27A1	1.000	0.120	9	114235944	intron variant	G/A	snv		6.8E-02	2
rs281874657	COL4A5	0.925	0.160	X	108586717	stop gained	C/T	snv			3
rs281874727	COL4A5	1.000	0.160	X	108681837	stop gained	C/T	snv			2
rs1282382243	DLEU7-AS1 ; DLEU1 ; DLEU7	0.807	0.120	13	50843630	missense variant	G/A	snv			8
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			15
rs763544450	ERG	1.000	0.080	21	38445560	missense variant	T/G	snv	4.0E-06		4
rs774038422	ERG	1.000	0.080	21	38391009	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs12155400	HDAC9			7	18389298	intron variant	A/G	snv		2.9E-02	2
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140