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
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs1129649	GNB3 ; P3H3	1.000	0.080	12	6839304	missense variant	T/C	snv	0.36	0.36	1
rs11169953	ACVRL1	1.000	0.080	12	51910615	intron variant	C/T	snv		0.36	1
rs706816	ACVRL1	1.000	0.080	12	51919180	missense variant	A/G	snv	0.26	0.31	1
rs6717924	BMPR2	0.925	0.160	2	202381581	intron variant	G/A	snv		0.13	2
rs16863247		0.925	0.160	1	162535706	regulatory region variant	A/G	snv		4.8E-02	2
rs74653691	LOC107984334 ; BEST1	1.000	0.080	11	61956981	missense variant	C/A	snv	3.9E-03	1.7E-02	1
rs150247275	BEST1 ; LOC107984334	1.000	0.080	11	61956986	synonymous variant	G/A	snv	1.3E-03	1.1E-03	1
rs121918284	BEST1 ; LOC107984334	0.882	0.080	11	61955892	missense variant	G/A	snv	5.2E-04	3.3E-04	5
rs200277476	LOC107984334 ; BEST1	0.925	0.080	11	61956946	missense variant	C/T	snv	2.6E-04	1.5E-04	2
rs752125512	FTH1 ; BEST1	1.000	0.080	11	61962569	frameshift variant	T/-	del	5.6E-05	5.6E-05	1
rs374772670	FTH1 ; BEST1	0.882	0.160	11	61962313	missense variant	G/A	snv	8.0E-06	2.8E-05	3
rs281865239	BEST1 ; LOC107984334	0.882	0.080	11	61957403	missense variant	G/A	snv	1.2E-05	1.4E-05	3
rs281865215	BEST1	1.000	0.080	11	61951880	missense variant	G/A	snv		1.4E-05	1
rs199508634	BEST1	1.000	0.080	11	61951826	missense variant	G/A	snv	2.8E-05	1.4E-05	1
rs281865277	LOC107984334 ; BEST1	0.925	0.080	11	61959564	missense variant	G/A	snv	4.8E-05	7.0E-06	2
rs281865218	BEST1	1.000	0.080	11	61951895	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs121918288	BEST1	0.925	0.080	11	61951928	missense variant	T/C	snv	2.0E-05	7.0E-06	2
rs121918283	BEST1 ; LOC107984334	1.000	0.080	11	61959511	inframe deletion	TCA/-	delins		7.0E-06	1
rs281865233	BEST1 ; LOC107984334	1.000	0.080	11	61955869	missense variant	C/G	snv		7.0E-06	1
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