DisGeNET - a database of gene-disease associations

List of associated variants

Strawberry nevus of skin, C0206733

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
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv			52
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs797045283	ARID1B	0.827	0.320	6	157207109	stop gained	C/T	snv			11
rs587776935	AKT3	0.827	0.120	1	243505296	missense variant	G/A	snv			7
rs7667298	KDR	0.827	0.120	4	55125564	5 prime UTR variant	T/C	snv		0.48	7