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
rs55705857	CCDC26	0.732	0.080	8	129633446	intron variant	A/G	snv		3.9E-02	16
rs4295627	CCDC26	0.763	0.200	8	129673211	intron variant	T/G	snv		0.17	11
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs2243248	IL4	0.763	0.240	5	132672952	upstream gene variant	T/A;C;G	snv			9
rs745934102	PDPN	0.882	0.040	1	13607281	missense variant	G/A	snv	3.2E-05	1.4E-05	5
rs374052197	PDPN	0.882	0.040	1	13610421	missense variant	G/A;T	snv	8.0E-06		5
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs28357681	ND6 ; CYTB	0.851	0.040	MT	14798	missense variant	T/C	snv			4
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1320938886	BLZF1	0.851	0.040	1	169376605	missense variant	T/G	snv	4.0E-06		4
rs12645561	NEIL3	0.882	0.120	4	177339718	intron variant	C/A;T	snv			3
rs1161136341	HDAC9	0.925	0.080	7	18591621	missense variant	G/A	snv	8.0E-06	1.4E-05	2
rs774238794	HDAC9	0.925	0.080	7	18644690	missense variant	G/A;T	snv	4.1E-05; 4.1E-06		2
rs2904551	PRODH	0.776	0.160	22	18918421	missense variant	A/G	snv	5.2E-03	2.8E-03	8
rs11670188	BTBD2	0.925	0.040	19	2014038	non coding transcript exon variant	A/G	snv		0.16	2
rs371854396	PINK1	1.000	0.040	1	20638098	missense variant	C/G;T	snv	1.6E-05; 4.0E-06		1
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs11515	CDKN2A ; CDKN2A-DT	0.882	0.040	9	21968200	3 prime UTR variant	C/A;G	snv	4.0E-06; 0.88		6
rs1210653597	CDKN2A	0.925	0.120	9	21968756	missense variant	T/C	snv			2
rs1453633223	CDKN2A	0.807	0.080	9	21974503	missense variant	C/T	snv	4.0E-06		6