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
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1805015	IL4R	0.683	0.520	16	27362859	missense variant	T/C	snv	0.16	0.22	22
rs11548193	BCAT2	0.925	0.040	19	48799813	missense variant	G/A;C	snv	0.14		2
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1801591	ETFA	0.882	0.040	15	76286421	missense variant	G/A	snv	7.4E-02	6.4E-02	4
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs2904551	PRODH	0.776	0.160	22	18918421	missense variant	A/G	snv	5.2E-03	2.8E-03	8
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs75184679	RNASEH2B	0.776	0.360	13	50945445	missense variant	G/A	snv	1.4E-03	1.4E-03	16
rs76151636	ATP7B	0.776	0.280	13	51944145	missense variant	G/A;T	snv	4.0E-06; 9.2E-04		10
rs572480837	POU5F1 ; TCF19	0.851	0.040	6	31165582	missense variant	T/A	snv	5.0E-04	8.4E-05	4
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs745934102	PDPN	0.882	0.040	1	13607281	missense variant	G/A	snv	3.2E-05	1.4E-05	5
rs373191257	AMFR	0.827	0.080	16	56363027	missense variant	T/A	snv	1.6E-05	7.0E-06	5
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs751859698	MSH4	0.925	0.040	1	75898031	missense variant	T/A;C	snv	1.2E-05		2
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16