DisGeNET - a database of gene-disease associations

List of shared variants

Primary malignant neoplasm, C1306459

Disease: 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
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs1057519945	POLE	0.776	0.200	12	132673703	missense variant	C/A;T	snv			12
rs1057519989	TP53	0.732	0.240	17	7674233	missense variant	C/A;G;T	snv			17
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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
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
rs11860248	RBBP6	0.882	0.040	16	24566445	intron variant	T/G	snv		0.27	5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480