DisGeNET - a database of gene-disease associations

List of associated variants

Vitelliform Macular Dystrophy, C0339510

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
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
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
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
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
rs281865238	BEST1 ; LOC107984334	0.851	0.080	11	61957402	missense variant	C/A;T	snv			4
rs281865239	BEST1 ; LOC107984334	0.882	0.080	11	61957403	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs374772670	FTH1 ; BEST1	0.882	0.160	11	61962313	missense variant	G/A	snv	8.0E-06	2.8E-05	3
rs61755797	PRPH2	0.882	0.080	6	42704565	missense variant	G/A;C	snv	4.0E-06		3
rs16863247		0.925	0.160	1	162535706	regulatory region variant	A/G	snv		4.8E-02	2
rs121918288	BEST1	0.925	0.080	11	61951928	missense variant	T/C	snv	2.0E-05	7.0E-06	2
rs281865207	BEST1	1.000	0.080	11	61951835	missense variant	C/T	snv			2
rs28940278	BEST1	0.925	0.080	11	61951946	missense variant	G/A	snv	1.6E-05		2
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
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
rs765998048	BEST1 ; LOC107984334	0.925	0.080	11	61956966	missense variant	C/T	snv	1.6E-05		2