DisGeNET - a database of gene-disease associations

List of shared variants

Glioma, C0017638

Disease: Childhood Glioblastoma

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
rs1005230	VEGFA	0.827	0.040	6	43768759	upstream gene variant	T/C	snv		0.60	5
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1373481065	GADD45A	0.827	0.040	1	67687668	missense variant	A/G	snv	4.0E-06		6
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs2234248	LOC105375056 ; TREM2	0.827	0.040	6	41163980	upstream gene variant	A/G	snv		2.2E-03	5
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		14