DisGeNET - a database of gene-disease associations

List of associated variants

Glioma, C0017638

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
rs2307191	XRCC1	0.827	0.120	19	43553616	missense variant	G/A	snv	1.2E-03	4.8E-03	5
rs72554204	XRCC1	0.827	0.120	19	43546062	missense variant	C/T	snv	1.2E-04	1.3E-04	5
rs25490	XRCC1	0.851	0.120	19	43552189	missense variant	T/C	snv	7.2E-03	2.6E-02	4
rs1052555	ERCC2	0.882	0.040	19	45352266	synonymous variant	G/A	snv	0.28	0.26	3
rs8105767	LOC112268248	0.882	0.120	19	22032639	non coding transcript exon variant	A/G	snv		0.35	3
rs547275481	TCF3	1.000	0.040	19	1621886	missense variant	C/T	snv		4.2E-05	1
rs2279115	BCL2	0.724	0.320	18	63319604	5 prime UTR variant	G/A;T	snv			18
rs2847153	TYMS	0.925	0.080	18	661647	intron variant	G/A	snv		0.22	3
rs1059394	TYMS ; ENOSF1	0.925	0.080	18	672792	3 prime UTR variant	C/T	snv		0.40	2
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			37
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs1800371	TP53	0.742	0.240	17	7676230	missense variant	G/A;T	snv	1.2E-03		15
rs7216389	GSDMB	0.732	0.440	17	39913696	intron variant	C/T	snv		0.60	14
rs1625895	TP53	0.752	0.200	17	7674797	non coding transcript exon variant	T/A;C;G	snv	9.1E-06; 0.86; 4.5E-06		13
rs2293157	STAT5A	0.763	0.120	17	42300657	intron variant	C/A;T	snv			9
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	8
rs1642785	TP53	0.807	0.200	17	7676483	5 prime UTR variant	G/A;C;T	snv	1.2E-05; 0.67; 2.8E-05		6
rs11079041	STAT5B	0.882	0.040	17	42262061	intron variant	T/A;C	snv		0.36	4
rs2289591	PER1 ; MIR6883	0.882	0.080	17	8144692	stop gained	C/A;G;T	snv	0.17; 7.2E-06; 7.2E-06		3
rs7502563	RPTOR	0.882	0.040	17	80947993	intron variant	G/A	snv		0.34	3