DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma, C0017636

Source: ALL

Results per page

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
rs1346787	EFEMP1 ; LOC112268416	0.882	0.040	2	55865477	downstream gene variant	C/A;G;T	snv			3
rs9933544		0.882	0.040	16	24576962	downstream gene variant	A/C	snv		0.29	3
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs3788266	S100B	0.732	0.160	21	46606442	upstream gene variant	G/A	snv		0.50	12
rs2243248	IL4	0.763	0.240	5	132672952	upstream gene variant	T/A;C;G	snv			9
rs1005230	VEGFA	0.827	0.040	6	43768759	upstream gene variant	T/C	snv		0.60	5
rs2234248	LOC105375056 ; TREM2	0.827	0.040	6	41163980	upstream gene variant	A/G	snv		2.2E-03	5
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			19
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv			17
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs1135401891	BRCA2	0.790	0.280	13	32332796	frameshift variant	-/CT	ins			7
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs1200941109	MYCN ; MYCNOS	0.882	0.040	2	15940679	frameshift variant	C/-;CC	delins			4
rs1558518449	MSH2	1.000	0.040	2	47475221	frameshift variant	ATGACGTA/-	delins			1
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs17748	TREH ; PHLDB1	0.827	0.080	11	118657714	3 prime UTR variant	C/T	snv		0.18	5
rs11558961	GFAP	0.925	0.040	17	44907319	3 prime UTR variant	G/C;T	snv	0.27; 1.2E-05		2
rs3829382	FLT3	0.925	0.040	13	28003551	3 prime UTR variant	G/T	snv		0.46	2
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs1801320	RAD51 ; RAD51-AS1	0.742	0.160	15	40695330	5 prime UTR variant	G/C	snv		0.12	15