DisGeNET - a database of gene-disease associations

List of associated variants

ABLEPHARON-MACROSTOMIA SYNDROME, C1860224

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs833070	VEGFA	0.776	0.440	6	43774889	non coding transcript exon variant	T/C	snv		0.58	11
rs1799722	BDKRB2	0.882	0.240	14	96204802	5 prime UTR variant	C/T	snv	0.41	0.39	4
rs480902	EGLN1	0.882	0.200	1	231395881	intron variant	T/C	snv		0.64	3
rs1553565140	TWIST2 ; LOC100287387	0.925	0.240	2	238848438	missense variant	G/A;C	snv			3
rs1413711	VEGFA	0.882	0.200	6	43772941	intron variant	T/A;C	snv			3
rs4953348	EPAS1	1.000	0.120	2	46331293	intron variant	A/G	snv		0.42	2
rs12406290	EGLN1	1.000	0.120	1	231423480	intron variant	A/G	snv		0.19	1
rs12757362	EGLN1	1.000	0.120	1	231426746	intron variant	G/C	snv		0.12	1
rs2153364	EGLN1	1.000	0.120	1	231424474	intron variant	A/G	snv		0.19	1
rs3025000	VEGFA	1.000	0.120	6	43778432	non coding transcript exon variant	C/T	snv	0.29	0.23	1