DisGeNET - a database of gene-disease associations

List of associated variants

Adult Oligodendroglioma, C0279070

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs1131691021	TP53	0.716	0.120	17	7675097	missense variant	A/C;G	snv			21
rs55705857	CCDC26	0.732	0.080	8	129633446	intron variant	A/G	snv		3.9E-02	16
rs483352909	POLE	0.752	0.160	12	132673664	missense variant	G/A;C	snv	1.6E-05		11
rs1034749666	OLIG2	0.776	0.160	21	33027257	missense variant	G/A	snv			9
rs587777627	POLD1	0.807	0.080	19	50406444	missense variant	T/C	snv			7
rs12232780	SMARCA4	0.807	0.080	19	11021404	non coding transcript exon variant	G/A	snv		0.23	6
rs2296212	LOC107987043 ; SMARCA2	0.827	0.080	9	2191309	missense variant	C/G	snv	0.17	0.17	5
rs11133391	CLOCK	0.851	0.040	4	55501788	intron variant	T/C	snv		0.33	4
rs4741651	LOC107987043 ; SMARCA2	0.851	0.040	9	2194030	downstream gene variant	C/T	snv		0.24	4
rs11672232	SMARCA4	0.851	0.040	19	10995924	missense variant	C/T	snv	0.31	0.32	4