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
rs72709458	TERT	0.882	0.040	5	1283640	intron variant	C/A;T	snv			5
rs10852606	HEATR3	0.882	0.040	16	50094961	intron variant	T/A;C	snv			4
rs59060240	EGFR	0.882	0.040	7	55080369	intron variant	AA/-;A;AAA;AAAA;AAAAAAAAAAA	delins			4
rs75061358		0.882	0.040	7	54848587	intergenic variant	T/C;G	snv			4
rs2235544	DIO1	0.742	0.240	1	53909897	intron variant	C/A;T	snv	0.53; 4.0E-06		3
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			3
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			2
rs648044	ZBTB16 ; LOC101928875	0.882	0.040	11	114160077	non coding transcript exon variant	A/G;T	snv			2
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		1
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		1
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	19
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	15
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	6
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs55705857	CCDC26	0.732	0.080	8	129633446	intron variant	A/G	snv		3.9E-02	4
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	2
rs1801591	ETFA	0.882	0.040	15	76286421	missense variant	G/A	snv	7.4E-02	6.4E-02	2
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs11233250	MIR4300HG	0.882	0.040	11	82685972	intron variant	C/T	snv		0.11	4
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	4
rs12752552	RAVER2	0.882	0.040	1	64763616	intron variant	T/C	snv		0.13	4
rs4295627	CCDC26	0.763	0.200	8	129673211	intron variant	T/G	snv		0.17	2
rs891835	CCDC26	0.851	0.120	8	129479506	intron variant	T/G	snv		0.17	2
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	4
rs7732320	SSBP2	0.925	0.040	5	81423306	intron variant	C/T	snv		0.22	2