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
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
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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
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
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
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
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs12885300	DIO2 ; DIO2-AS1	0.790	0.200	14	80211923	5 prime UTR variant	C/A;G;T	snv			7
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs1957106	NFKBIA	0.851	0.040	14	35404564	synonymous variant	G/A	snv	0.28	0.25	4
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs3024994	VEGFA	0.776	0.120	6	43775770	non coding transcript exon variant	C/T	snv		3.8E-02	8