DisGeNET - a database of gene-disease associations

List of shared variants

Brain Neoplasms, C0006118

Disease: Glioblastoma Multiforme

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			16
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			17
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs149840192	EGFR	0.807	0.080	7	55154129	missense variant	C/A;T	snv			7
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83