DisGeNET - a database of gene-disease associations

List of associated variants

Age related macular degeneration, C0242383

Source: GWASCAT ×

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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
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	1
rs4151659	CFB ; CYP21A2	0.925	0.160	6	31950687	missense variant	A/G	snv	1.1E-02	1.8E-02	1
rs4151667	CFB ; CYP21A2	0.790	0.320	6	31946247	missense variant	T/A	snv	3.9E-02	3.4E-02	1
rs541862	CFB ; CYP21A2	0.882	0.160	6	31949174	non coding transcript exon variant	T/C	snv		0.12	1
rs2072633	CFB ; CYP21A2 ; NELFE	0.807	0.320	6	31951801	3 prime UTR variant	A/G	snv		0.59	1
rs1061147	CFH	1.000	0.040	1	196685194	synonymous variant	A/C	snv	0.68	0.62	1
rs10733086	CFH	1.000	0.040	1	196707805	intron variant	A/C;T	snv			1
rs10754199	CFH	1.000	0.040	1	196701709	intron variant	A/G	snv		0.64	1
rs10801553	CFH	1.000	0.040	1	196686613	intron variant	A/C	snv		0.64	1
rs10801555	CFH	1.000	0.040	1	196691131	intron variant	A/G	snv		0.64	1
rs12038333	CFH	1.000	0.040	1	196703324	intron variant	G/A	snv		0.64	1
rs1329424	CFH	1.000	0.040	1	196677046	non coding transcript exon variant	T/G	snv		0.66	1
rs3753394	CFH	0.882	0.040	1	196651787	upstream gene variant	C/T	snv		0.22	1
rs380390	CFH	0.925	0.160	1	196731921	intron variant	G/A;C;T	snv			1
rs6695321	CFH	1.000	0.040	1	196706731	intron variant	A/G	snv		0.36	1
rs6685931	CFHR4	1.000	0.040	1	196898103	intron variant	T/C	snv		0.28	1
rs10494745	CFHR4 ; LOC105371675	1.000	0.040	1	196918327	missense variant	G/A	snv	8.0E-02	7.4E-02	1
rs13081855	COL8A1	1.000	0.040	3	99762695	intron variant	G/T	snv		8.0E-02	1
rs1800947	CRP	0.683	0.440	1	159713648	splice region variant	C/A;G;T	snv	4.4E-05; 5.1E-02; 4.0E-06		1
rs8056814	CTRB1	0.925	0.160	16	75218429	upstream gene variant	G/A	snv		0.16	1
rs522162	CYP21A2 ; CFB ; NELFE	0.925	0.160	6	31952140	3 prime UTR variant	T/C	snv		0.12	1
rs406936	CYP21A2 ; SKIV2L	0.882	0.240	6	31965384	intron variant	G/A	snv		0.19	1
rs429608	CYP21A2 ; SKIV2L	0.851	0.160	6	31962685	intron variant	G/A	snv	0.14	0.16	1
rs145146260	DISC1FP1	1.000	0.040	11	90461541	intron variant	T/-	delins		9.0E-02	1
rs12887388	DPF3	1.000	0.040	14	72863136	intron variant	G/A	snv		0.64	1