DisGeNET - a database of gene-disease associations

Disease: Glioblastoma

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs121913255	NRAS	0.667	0.400	1	114713907	missense variant	T/A;G	snv			26
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			14
rs1057519936	PIK3CA	0.776	0.200	3	179234284	missense variant	A/G;T	snv			11
rs1057519937	PIK3CA	0.776	0.200	3	179234285	missense variant	T/C	snv			11