DisGeNET - a database of gene-disease associations

List of associated variants

Recurrent tumor, C0521158

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
rs894151	C8orf37-AS1	1.000	0.080	8	95226180	intron variant	T/C	snv		0.39	2
rs9926344	WWOX	1.000	0.080	16	78986883	intron variant	G/A;C;T	snv			2
rs553717	GPC5			13	91693325	missense variant	C/T	snv	0.14	0.14	1
rs778264641	SND1			7	127686719	missense variant	G/A	snv			1
rs984502020	NR1I2			3	119807429	missense variant	G/C	snv			1
rs747489687	MCPH1	0.925	0.080	8	6444626	frameshift variant	AAGAAATATTGCA/-	delins	2.3E-04	1.0E-04	4
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1057519855	HRAS ; LRRC56	0.776	0.120	11	533873	missense variant	CT/AC;TC	mnv			11