DisGeNET - a database of gene-disease associations

List of associated variants

Brain Neoplasms, C0006118

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
rs1802710	DLK1			14	100734308	synonymous variant	T/A;C	snv	0.63		3
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs762584624	MYL2			12	110919162	missense variant	C/A	snv	4.0E-06		1
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
rs1800435	ALAD	0.827	0.200	9	113391611	missense variant	C/G	snv	8.3E-02	6.1E-02	7
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
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397516813	RAF1	0.925	0.160	3	12599717	missense variant	C/G	snv			3
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs745934102	PDPN	0.882	0.040	1	13607281	missense variant	G/A	snv	3.2E-05	1.4E-05	5
rs374052197	PDPN	0.882	0.040	1	13610421	missense variant	G/A;T	snv	8.0E-06		5
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480