DisGeNET - a database of gene-disease associations

List of associated variants

Polypoidal choroidal vasculopathy, C1504336

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
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv		0.28	13
rs2285714	PLA2G12A	0.882	0.040	4	109717654	synonymous variant	C/T	snv	0.37	0.31	3
rs10033900	CFI	0.807	0.040	4	109737911	intron variant	T/C	snv		0.54	7
rs1999930	FRK	0.882	0.040	6	116065971	intergenic variant	C/A;G;T	snv			3
rs10490924	ARMS2 ; LOC105378525	0.716	0.240	10	122454932	missense variant	G/T	snv	0.26	0.23	16
rs3750847	LOC105378525 ; ARMS2	0.882	0.040	10	122455905	intron variant	C/T	snv		0.23	4
rs3793917	HTRA1 ; LOC105378525	0.882	0.040	10	122459759	non coding transcript exon variant	C/G	snv		0.23	3
rs11200638	LOC105378525 ; HTRA1	0.724	0.280	10	122461028	non coding transcript exon variant	G/A	snv		0.23	14
rs2672598	HTRA1 ; LOC105378525	0.851	0.160	10	122461166	non coding transcript exon variant	T/C	snv		0.49	4
rs369149111	LOC105378525 ; HTRA1	1.000		10	122461711	missense variant	C/T	snv	2.1E-02	9.0E-03	1
rs1049331	LOC105378525 ; HTRA1	0.851	0.040	10	122461754	synonymous variant	C/T	snv	0.32	0.23	5
rs2293870	LOC105378525 ; HTRA1	0.851	0.160	10	122461760	synonymous variant	G/C;T	snv	5.9E-02; 0.32		4
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1136287	SERPINF1	0.790	0.280	17	1769982	missense variant	C/T	snv	0.61	0.69	8
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs3753394	CFH	0.882	0.040	1	196651787	upstream gene variant	C/T	snv		0.22	5
rs800292	CFH	0.645	0.560	1	196673103	missense variant	G/A	snv	0.32	0.40	33
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs2274700	CFH	0.776	0.240	1	196713817	synonymous variant	G/A;C;T	snv	0.44		11
rs1410996	CFH	0.807	0.240	1	196727803	intron variant	G/A	snv		0.46	11
rs1329428	CFH	0.807	0.160	1	196733680	intron variant	C/T	snv		0.44	9
rs1065489	CFH	0.695	0.440	1	196740644	missense variant	G/T	snv	0.20	0.15	19
rs12678919		0.882	0.080	8	19986711	intergenic variant	A/G	snv		1.0E-01	10
rs754100400	IGFN1	0.925	0.040	1	201211089	missense variant	A/G	snv	7.1E-06	4.6E-05	2
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44