DisGeNET - a database of gene-disease associations

List of associated variants

Exudative age-related macular degeneration, C0271084

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
rs3800787	ATG9B	1.000	0.040	7	151016548	intron variant	G/A;C;T	snv	0.41; 1.3E-05		1
rs3918227	NOS3	1.000	0.040	7	151003858	3 prime UTR variant	C/A	snv		6.8E-02	1
rs4482537		0.925	0.040	2	48825116	intron variant	C/T	snv		0.52	2
rs225396	ABCG1	0.925	0.040	21	42267244	intron variant	C/T	snv		0.45	2
rs11775442	ANGPT2 ; MCPH1	0.925	0.040	8	6538837	intron variant	A/G	snv		0.20	2
rs13269021	ANGPT2 ; MCPH1	0.925	0.040	8	6539242	intron variant	G/A;T	snv			2
rs2295334	C6orf223 ; LOC101929705	0.925	0.040	6	44003090	synonymous variant	G/A	snv	5.0E-02	3.9E-02	2
rs3173800	CD36	0.925	0.040	7	80660605	intron variant	A/T	snv		0.29	2
rs75165563	EXOC5	0.925	0.040	14	57220928	intron variant	A/C	snv		4.5E-04	2
rs10507047	FGD6	0.925	0.040	12	95210514	missense variant	T/C	snv	0.12	0.11	2
rs754100400	IGFN1	0.925	0.040	1	201211089	missense variant	A/G	snv	7.1E-06	4.6E-05	2
rs8002574	LHFPL6 ; LOC105370170	0.925	0.040	13	39504403	intron variant	C/T	snv		0.13	2
rs4455855	MCPH1 ; ANGPT2	0.925	0.040	8	6539909	intron variant	A/T	snv		0.57	2
rs4910623	OR52B4	0.925	0.040	11	4368409	upstream gene variant	G/A;T	snv			2
rs2268615	PGF	0.925	0.080	14	74951714	intron variant	C/A;T	snv			2
rs28368872		0.882	0.040	16	10491493	upstream gene variant	G/A	snv		0.22	3
rs2736911	ARMS2 ; LOC105378525	0.882	0.120	10	122454839	stop gained	C/A;T	snv	4.0E-06; 0.13		3
rs6982567	C8orf37-AS1	0.882	0.040	8	95738053	intron variant	C/T	snv		0.24	3
rs1999930	FRK	0.882	0.040	6	116065971	intergenic variant	C/A;G;T	snv			3
rs2284665	HTRA1	0.882	0.040	10	122467114	intron variant	G/A;T	snv			3
rs3793917	HTRA1 ; LOC105378525	0.882	0.040	10	122459759	non coding transcript exon variant	C/G	snv		0.23	3
rs4711751	LOC107986598	0.882	0.040	6	43860845	intergenic variant	T/C	snv		0.37	3
rs2268614	PGF ; LOC107984690	0.882	0.120	14	74949297	intron variant	C/T	snv		0.34	3
rs2285714	PLA2G12A	0.882	0.040	4	109717654	synonymous variant	C/T	snv	0.37	0.31	3
rs12661281	SLC44A4 ; CYP21A2	0.882	0.040	6	31874821	missense variant	T/A	snv	0.15	0.11	3