DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma Multiforme, C1621958

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
rs2234248	LOC105375056 ; TREM2	0.827	0.040	6	41163980	upstream gene variant	A/G	snv		2.2E-03	5
rs2440472	AMFR	0.827	0.080	16	56402912	intron variant	A/G	snv		0.61	5
rs12230172	LOC105369844	0.882	0.040	12	75848895	intron variant	A/G	snv		0.48	4
rs723527	EGFR	0.882	0.040	7	55067179	intron variant	A/G	snv		0.53	4
rs6470745	CCDC26	0.882	0.040	8	129629675	intron variant	A/G	snv		0.18	3
rs11670188	BTBD2	0.925	0.040	19	2014038	non coding transcript exon variant	A/G	snv		0.16	2
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		23
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs11979158	EGFR	0.882	0.040	7	55091656	intron variant	A/G;T	snv		0.20	5
rs648044	ZBTB16 ; LOC101928875	0.882	0.040	11	114160077	non coding transcript exon variant	A/G;T	snv			4
rs2291427	ALOX5	0.925	0.040	10	45440776	intron variant	A/G;T	snv			2
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs11196067	VTI1A	0.752	0.160	10	112709306	intron variant	A/T	snv		0.32	10
rs2562152	RHBDF1	0.882	0.040	16	73898	intron variant	A/T	snv		0.67	4
rs59060240	EGFR	0.882	0.040	7	55080369	intron variant	AA/-;A;AAA;AAAA;AAAAAAAAAAA	delins			4
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs7003908	PRKDC	0.716	0.320	8	47858141	intron variant	C/A	snv		0.66	16
rs753152604	CDK4	0.827	0.040	12	57751680	missense variant	C/A	snv			7
rs3092993	ATM ; C11orf65	0.827	0.040	11	108364388	intron variant	C/A	snv		0.11	5
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs11515	CDKN2A ; CDKN2A-DT	0.882	0.040	9	21968200	3 prime UTR variant	C/A;G	snv	4.0E-06; 0.88		6
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144