DisGeNET - a database of gene-disease associations

List of associated variants

Adult Glioblastoma, C0278878

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
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs4295627	CCDC26	0.763	0.200	8	129673211	intron variant	T/G	snv		0.17	11
rs1320938886	BLZF1	0.851	0.040	1	169376605	missense variant	T/G	snv	4.0E-06		4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs1005230	VEGFA	0.827	0.040	6	43768759	upstream gene variant	T/C	snv		0.60	5
rs781490101	TP53	0.851	0.040	17	7673748	missense variant	T/C	snv	8.0E-06		5
rs1306185959	FGFR1	0.851	0.040	8	38429805	missense variant	T/C	snv		7.0E-06	4
rs28357681	ND6 ; CYTB	0.851	0.040	MT	14798	missense variant	T/C	snv			4
rs755794544	PDGFA	0.851	0.040	7	512435	missense variant	T/C	snv	4.0E-06		4
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs17296479		0.851	0.040	5	81411157	non coding transcript exon variant	T/A	snv		9.4E-02	5
rs373191257	AMFR	0.827	0.080	16	56363027	missense variant	T/A	snv	1.6E-05	7.0E-06	5
rs2017309	CHEK2	0.851	0.040	22	28735438	intron variant	T/A	snv		0.23	4
rs572480837	POU5F1 ; TCF19	0.851	0.040	6	31165582	missense variant	T/A	snv	5.0E-04	8.4E-05	4
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1801320	RAD51 ; RAD51-AS1	0.742	0.160	15	40695330	5 prime UTR variant	G/C	snv		0.12	15
rs660118	SART1	0.807	0.080	11	65967703	missense variant	G/C	snv	0.46	0.36	6
rs76151636	ATP7B	0.776	0.280	13	51944145	missense variant	G/A;T	snv	4.0E-06; 9.2E-04		10
rs745542298	TP73	0.807	0.080	1	3732781	missense variant	G/A;T	snv	8.6E-06; 4.3E-06	2.1E-05	6
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51