DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma Multiforme, C1621958

Source: GWASCAT ×

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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
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	16
rs10852606	HEATR3	0.882	0.040	16	50094961	intron variant	T/A;C	snv			4
rs11233250	MIR4300HG	0.882	0.040	11	82685972	intron variant	C/T	snv		0.11	4
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	19
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	4
rs12230172	LOC105369844	0.882	0.040	12	75848895	intron variant	A/G	snv		0.48	2
rs12752552	RAVER2	0.882	0.040	1	64763616	intron variant	T/C	snv		0.13	4
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		1
rs145929329	CDKN2B-AS1	0.882	0.040	9	22066213	intron variant	TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT	delins		0.58	2
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	2
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	1
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	2
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	4
rs1801591	ETFA	0.882	0.040	15	76286421	missense variant	G/A	snv	7.4E-02	6.4E-02	2
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	4
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		3
rs2235573	SLC16A8	0.882	0.040	22	38081923	synonymous variant	G/A	snv	0.47	0.46	4
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	4
rs2562152	RHBDF1	0.882	0.040	16	73898	intron variant	A/T	snv		0.67	4
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	1
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	12
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	1