DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma, C0017636

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
rs771563543	ZEB1	0.851	0.040	10	31510841	missense variant	G/A	snv	4.0E-06	1.4E-05	5
rs648044	ZBTB16 ; LOC101928875	0.882	0.040	11	114160077	non coding transcript exon variant	A/G;T	snv			4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs11196067	VTI1A	0.752	0.160	10	112709306	intron variant	A/T	snv		0.32	10
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs3024994	VEGFA	0.776	0.120	6	43775770	non coding transcript exon variant	C/T	snv		3.8E-02	8
rs1005230	VEGFA	0.827	0.040	6	43768759	upstream gene variant	T/C	snv		0.60	5
rs6971	TSPO	0.742	0.200	22	43162920	missense variant	A/G	snv	0.76	0.75	11
rs17748	TREH ; PHLDB1	0.827	0.080	11	118657714	3 prime UTR variant	C/T	snv		0.18	5
rs769809364	TP73	0.807	0.080	1	3732940	missense variant	G/A	snv	8.5E-06	1.4E-05	7
rs745542298	TP73	0.807	0.080	1	3732781	missense variant	G/A;T	snv	8.6E-06; 4.3E-06	2.1E-05	6
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
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			37
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34