DisGeNET - a database of gene-disease associations

List of associated variants

Age related macular degeneration, C0242383

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
rs6003	F13B	0.851	0.240	1	197061891	missense variant	C/T	snv	0.88	0.76	5
rs1048709	CFB ; CYP21A2	0.776	0.320	6	31947158	synonymous variant	A/G	snv	0.82	0.85	8
rs224589	SLC11A2	1.000	0.040	12	51005267	intron variant	T/C;G	snv	8.0E-06; 0.76		1
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs154001	FBN2	1.000	0.040	5	128349443	missense variant	C/G;T	snv	0.73		3
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1045216	PLEKHA1	1.000	0.040	10	122429681	missense variant	A/G	snv	0.68	0.69	1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1061147	CFH	1.000	0.040	1	196685194	synonymous variant	A/C	snv	0.68	0.62	1
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs1878326	MFGE8	0.925	0.160	15	88907356	missense variant	G/T	snv	0.62	0.67	2
rs1136287	SERPINF1	0.790	0.280	17	1769982	missense variant	C/T	snv	0.61	0.69	8
rs1130459	TF ; INHCAP	1.000	0.040	3	133746439	5 prime UTR variant	A/G	snv	0.60	0.58	1
rs5888	SCARB1	0.752	0.200	12	124800202	synonymous variant	A/G;T	snv	0.59; 4.0E-06		11
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2071277	NOTCH4	0.882	0.200	6	32203906	intron variant	T/C	snv	0.48	0.46	3
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		46
rs4612730	PLEKHA1 ; MIR3941	1.000	0.040	10	122416936	intron variant	G/A	snv	0.47	0.47	1
rs3817672	TFRC	0.882	0.240	3	196073940	missense variant	C/T	snv	0.45	0.43	4
rs4586	CCL2	0.790	0.280	17	34256250	synonymous variant	T/C	snv	0.44	0.48	8
rs2274700	CFH	0.776	0.240	1	196713817	synonymous variant	G/A;C;T	snv	0.44		11
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs11715522	CX3CR1	1.000	0.040	3	39281672	missense variant	A/C	snv	0.42	0.35	1