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
rs11670188	BTBD2	0.925	0.040	19	2014038	non coding transcript exon variant	A/G	snv		0.16	2
rs10464870	CCDC26	0.882	0.040	8	129465577	intron variant	C/T	snv		0.80	2
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	2
rs9642393	EGFR	0.925	0.040	7	55177954	intron variant	T/C	snv		0.24	2
rs7325927	FAM155A-IT1 ; FAM155A	0.925	0.040	13	107823165	intron variant	C/T	snv		0.38	2
rs3829382	FLT3	0.925	0.040	13	28003551	3 prime UTR variant	G/T	snv		0.46	2
rs11558961	GFAP	0.925	0.040	17	44907319	3 prime UTR variant	G/C;T	snv	0.27; 1.2E-05		2
rs759927375	H4C1 ; H3C1	0.925	0.040	6	26020589	missense variant	G/A;C	snv	1.2E-05; 8.0E-06		2
rs1435266782	IDH2	0.925	0.040	15	90088633	missense variant	C/A;T	snv	4.0E-06		2
rs12230172	LOC105369844	0.882	0.040	12	75848895	intron variant	A/G	snv		0.48	2
rs751859698	MSH4	0.925	0.040	1	75898031	missense variant	T/A;C	snv	1.2E-05		2
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			2
rs3851634	POLR3B	0.882	0.040	12	106419124	intron variant	T/C	snv		0.22	2
rs75184679	RNASEH2B	0.776	0.360	13	50945445	missense variant	G/A	snv	1.4E-03	1.4E-03	2
rs8957	SLC2A4RG	0.925	0.040	20	63742354	missense variant	G/T	snv	0.71	0.78	2
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			2
rs1057519989	TP53	0.732	0.240	17	7674233	missense variant	C/A;G;T	snv			2
rs587780073	TP53	0.708	0.400	17	7674262	missense variant	T/C;G	snv			2
rs648044	ZBTB16 ; LOC101928875	0.882	0.040	11	114160077	non coding transcript exon variant	A/G;T	snv			2
rs13332653		0.882	0.040	16	24578078	intergenic variant	T/G	snv		0.11	3
rs9933544		0.882	0.040	16	24576962	downstream gene variant	A/C	snv		0.29	3
rs6470745	CCDC26	0.882	0.040	8	129629675	intron variant	A/G	snv		0.18	3
rs891835	CCDC26	0.851	0.120	8	129479506	intron variant	T/G	snv		0.17	3
rs1346787	EFEMP1 ; LOC112268416	0.882	0.040	2	55865477	downstream gene variant	C/A;G;T	snv			3
rs121913428	EGFR	0.827	0.120	7	55174015	missense variant	G/A;C	snv			3