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
rs868005	ELN	1.000		7	74030784	intron variant	T/C	snv		0.30	1
rs77466370	FGD6	1.000		12	95210298	missense variant	T/C	snv	2.6E-03	8.2E-04	1
rs369149111	LOC105378525 ; HTRA1	1.000		10	122461711	missense variant	C/T	snv	2.1E-02	9.0E-03	1
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
rs138195505	C2 ; CYP21A2	0.925	0.040	6	31933645	missense variant	G/A;T	snv	2.0E-05; 1.6E-05		2
rs17030	C3	0.925	0.080	19	6677978	synonymous variant	G/A;C	snv	0.52; 4.0E-06		2
rs344555	C3	0.925	0.040	19	6679349	intron variant	T/C	snv		0.80	2
rs3173798	CD36	0.925	0.040	7	80656534	splice region variant	T/C	snv	0.14	0.13	2
rs3173800	CD36	0.925	0.040	7	80660605	intron variant	A/T	snv		0.29	2
rs754100400	IGFN1	0.925	0.040	1	201211089	missense variant	A/G	snv	7.1E-06	4.6E-05	2
rs4455855	MCPH1 ; ANGPT2	0.925	0.040	8	6539909	intron variant	A/T	snv		0.57	2
rs493258	ALDH1A2	0.925	0.040	15	58395681	intron variant	T/C	snv		0.50	3
rs6982567	C8orf37-AS1	0.882	0.040	8	95738053	intron variant	C/T	snv		0.24	3
rs541862	CFB ; CYP21A2	0.882	0.160	6	31949174	non coding transcript exon variant	T/C	snv		0.12	3
rs547154	CYP21A2 ; C2 ; C2-AS1	0.882	0.160	6	31943161	intron variant	G/T	snv		0.12	3
rs2301995	ELN	0.882	0.160	7	74037810	non coding transcript exon variant	G/A	snv		0.11	3
rs2070746	FPR1	0.882	0.040	19	51746449	synonymous variant	G/T	snv	0.34	0.30	3
rs78488639	FPR1	0.882	0.160	19	51746706	missense variant	G/A;T	snv	1.2E-05; 8.6E-03		3
rs867229	FPR1	0.882	0.160	19	51745746	3 prime UTR variant	G/A;T	snv			3
rs1999930	FRK	0.882	0.040	6	116065971	intergenic variant	C/A;G;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
rs2285714	PLA2G12A	0.882	0.040	4	109717654	synonymous variant	C/T	snv	0.37	0.31	3