DisGeNET - a database of gene-disease associations

List of associated variants

Vitelliform Macular Dystrophy, C0339510

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	Num. diseases
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06	100
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63	99
rs6354	SLC6A4	0.732	0.280	17	30222880	5 prime UTR variant	G/C;T	snv		16
rs148060787	BEST1 ; FTH1	0.851	0.080	11	61962853	missense variant	C/G;T	snv	4.4E-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
rs281865238	BEST1 ; LOC107984334	0.851	0.080	11	61957402	missense variant	C/A;T	snv		4
rs61755797	PRPH2	0.882	0.080	6	42704565	missense variant	G/A;C	snv	4.0E-06	3
rs199529046	BEST1 ; LOC107984334	0.925	0.080	11	61956964	missense variant	T/C;G	snv	6.8E-05	2
rs267606677	BEST1 ; LOC107984334	0.925	0.080	11	61957430	missense variant	A/G	snv		2
rs281865207	BEST1	1.000	0.080	11	61951835	missense variant	C/T	snv		2
rs281865223	LOC107984334 ; BEST1	0.925	0.080	11	61955742	missense variant	C/A;T	snv	6.9E-06	2
rs281865225	LOC107984334 ; BEST1	0.925	0.080	11	61955745	missense variant	G/A;T	snv		2
rs281865250	LOC107984334 ; BEST1	0.925	0.080	11	61959507	missense variant	C/A	snv		2
rs281865255	BEST1 ; LOC107984334	0.925	0.080	11	61959517	missense variant	A/G	snv		2
rs281865258	BEST1 ; LOC107984334	0.925	0.080	11	61959528	missense variant	G/A	snv		2
rs281865264	BEST1 ; LOC107984334	1.000	0.080	11	61959539	missense variant	T/A;C	snv	4.0E-06	2
rs28940273	LOC107984334 ; BEST1	0.925	0.080	11	61955749	stop gained	G/A;C	snv		2
rs28940278	BEST1	0.925	0.080	11	61951946	missense variant	G/A	snv	1.6E-05	2
rs713993045	IMPG1	0.925	0.080	6	76018812	missense variant	A/C	snv		2
rs713993049	IMPG2	0.925	0.080	3	101232784	missense variant	C/A	snv	8.0E-06	2
rs762398929	FTH1 ; BEST1	0.925	0.080	11	61962704	stop gained	C/G	snv	2.0E-05	2
rs765998048	BEST1 ; LOC107984334	0.925	0.080	11	61956966	missense variant	C/T	snv	1.6E-05	2
rs886039311	LOC107984334 ; BEST1	0.925	0.080	11	61959504	missense variant	G/A;C	snv		2