DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma Multiforme, C1621958

Source: INFERRED ×

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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
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	31
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	21
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	19
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			18
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			18
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	17
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	16
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			14
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		10
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	8
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	7
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			7
rs634537	CDKN2B-AS1	0.851	0.080	9	22032153	intron variant	T/G	snv		0.28	6
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs35850753	TP53	0.807	0.080	17	7675353	5 prime UTR variant	C/T	snv		1.3E-02	6
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			5
rs72709458	TERT	0.882	0.040	5	1283640	intron variant	C/A;T	snv			5