DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma, C0017636

Source: BEFREE ×

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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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213
rs1135401891	BRCA2	0.790	0.280	13	32332796	frameshift variant	-/CT	ins			6
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs4652	LGALS3	0.752	0.200	14	55138318	missense variant	A/C	snv	4.1E-06; 0.45	0.57	11
rs374524467	PITX2	0.827	0.040	4	110632961	missense variant	A/C	snv	8.0E-06	7.0E-06	5
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5
rs9933544		0.882	0.040	16	24576962	downstream gene variant	A/C	snv		0.29	3
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			19
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		484
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			16
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			4
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			2
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			1
rs530941076	TP53	0.695	0.280	17	7674873	missense variant	A/C;G;T	snv	4.0E-06		1
rs876659675	TP53	0.807	0.280	17	7674199	missense variant	A/C;G;T	snv			1
rs876660821	TP53	0.689	0.400	17	7675075	missense variant	A/C;G;T	snv			1
rs1057520004	TP53	0.752	0.240	17	7674884	missense variant	A/C;T	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	187
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	107
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	97
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64