DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Glioblastoma, C0280474

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
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs373584770	CASP1	0.827	0.120	11	105030337	missense variant	G/A	snv	4.0E-06	7.0E-06	5
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs3092993	ATM ; C11orf65	0.827	0.040	11	108364388	intron variant	C/A	snv		0.11	5
rs374524467	PITX2	0.827	0.040	4	110632961	missense variant	A/C	snv	8.0E-06	7.0E-06	5
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
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
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
rs1320938886	BLZF1	0.851	0.040	1	169376605	missense variant	T/G	snv	4.0E-06		4
rs2904551	PRODH	0.776	0.160	22	18918421	missense variant	A/G	snv	5.2E-03	2.8E-03	8
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
rs1453633223	CDKN2A	0.807	0.080	9	21974503	missense variant	C/T	snv	4.0E-06		6
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28