DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Glioblastoma, C0280474

Source: ALL

Results per page

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
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs63750949	FBXO11 ; MSH6	0.827	0.080	2	47806213	missense variant	C/A;T	snv			6
rs1306185959	FGFR1	0.851	0.040	8	38429805	missense variant	T/C	snv		7.0E-06	4
rs375391381	FRMD5	0.851	0.040	15	43883735	missense variant	C/T	snv	8.0E-06	1.4E-05	4
rs1373481065	GADD45A	0.827	0.040	1	67687668	missense variant	A/G	snv	4.0E-06		6
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs1381537616	HOXA10 ; HOXA9 ; HOXA10-HOXA9	0.851	0.040	7	27174132	missense variant	C/T	snv			4
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
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs4652	LGALS3	0.752	0.200	14	55138318	missense variant	A/C	snv	4.1E-06; 0.45	0.57	12
rs2234248	LOC105375056 ; TREM2	0.827	0.040	6	41163980	upstream gene variant	A/G	snv		2.2E-03	5
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19