DisGeNET - a database of gene-disease associations

List of associated variants

Disorder of macula of retina, C0730362

Source: ALL

Results per page

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
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			15
rs137853006	PROM1	0.776	0.080	4	16013299	missense variant	G/A	snv			11
rs61755783	PRPH2	0.763	0.080	6	42721911	missense variant	G/A	snv		1.4E-05	11
rs61755792	PRPH2	0.763	0.160	6	42721821	missense variant	G/A;C	snv			10
rs587777011	FAM111A	0.925	0.160	11	59153374	missense variant	G/A	snv			7
rs148060787	BEST1 ; FTH1	0.851	0.080	11	61962853	missense variant	C/G;T	snv	4.4E-04		5
rs121918284	BEST1 ; LOC107984334	0.882	0.080	11	61955892	missense variant	G/A	snv	5.2E-04	3.3E-04	5
rs1800995	BEST1 ; LOC107984334	0.851	0.080	11	61955906	missense variant	GC/AA	mnv			5
rs1805142	BEST1 ; LOC107984334	0.851	0.080	11	61955825	stop gained	G/C;T	snv	2.7E-05		5
rs281865275	LOC107984334 ; BEST1	0.851	0.080	11	61957397	missense variant	C/G;T	snv	8.0E-06; 2.8E-05		5
rs61751389	ABCA4	0.925	0.040	1	94007722	frameshift variant	C/-	del	2.8E-05	7.0E-06	4
rs772400670	LOC107986298 ; CYP2U1	0.925	0.080	4	107947417	stop gained	C/A;G;T	snv	8.0E-06; 1.2E-05; 1.2E-05		3
rs281875321	SMAD4	0.925	0.360	18	51078307	missense variant	T/C	snv			3
rs61751377	ABCA4	1.000		1	94019581	splice donor variant	C/T	snv	2.2E-05	7.0E-06	2
rs62642574	ABCA4	1.000		1	94024994	missense variant	C/T	snv	1.1E-04	6.3E-05	2
rs150427474	AIPL1	1.000	0.040	17	6425644	missense variant	C/A;T	snv	3.8E-03; 8.0E-05		2
rs62637015	AIPL1	1.000	0.040	17	6425710	missense variant	C/A;T	snv	2.6E-03; 1.2E-05		2
rs11873439	CCDC102B	1.000	0.040	18	69077051	intergenic variant	A/C	snv		0.17	2
rs200060005	FBN2	1.000		5	128338975	missense variant	C/G;T	snv	4.0E-06; 4.4E-05		2
rs745897683	GUCY2D	1.000	0.040	17	8004035	missense variant	G/T	snv	4.0E-06		2
rs150418024	MFSD8	1.000		4	127921956	missense variant	C/G;T	snv	2.4E-03; 4.0E-06		2
rs1557787756	ABCA4			1	94063158	stop gained	G/A	snv			1
rs551519696	TULP1			6	35503624	missense variant	G/A;T	snv	4.5E-06; 9.0E-06		1