DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma, C0017636

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
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
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
rs3851634	POLR3B	0.882	0.040	12	106419124	intron variant	T/C	snv		0.22	4
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs7325927	FAM155A-IT1 ; FAM155A	0.925	0.040	13	107823165	intron variant	C/T	snv		0.38	2
rs1555138291	ATM ; C11orf65	0.925	0.240	11	108345859	stop gained	G/A	snv			2
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
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs1057519913	MTOR	0.925	0.120	1	11157172	missense variant	G/C	snv			3
rs786205165	MTOR	0.882	0.120	1	11157173	missense variant	C/A;T	snv			4
rs1057519914	MTOR	0.851	0.240	1	11157174	missense variant	A/G	snv			5
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs11196067	VTI1A	0.752	0.160	10	112709306	intron variant	A/T	snv		0.32	10
rs648044	ZBTB16 ; LOC101928875	0.882	0.040	11	114160077	non coding transcript exon variant	A/G;T	snv			4
rs121913255	NRAS	0.667	0.400	1	114713907	missense variant	T/A;G	snv			26
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs17748	TREH ; PHLDB1	0.827	0.080	11	118657714	3 prime UTR variant	C/T	snv		0.18	5
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53