DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma Multiforme, C1621958

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
rs9933544		0.882	0.040	16	24576962	downstream gene variant	A/C	snv		0.29	3
rs9642393	EGFR	0.925	0.040	7	55177954	intron variant	T/C	snv		0.24	2
rs8957	SLC2A4RG	0.925	0.040	20	63742354	missense variant	G/T	snv	0.71	0.78	2
rs891835	CCDC26	0.851	0.120	8	129479506	intron variant	T/G	snv		0.17	5
rs879254044	MSH2	0.925	0.040	2	47475148	missense variant	G/A;C;T	snv			3
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5
rs863225401	MSH6 ; FBXO11	0.925	0.040	2	47799866	stop gained	G/A	snv			4
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs8057643	RBFOX1	0.851	0.040	16	6910689	intron variant	C/A;T	snv			4
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs781490101	TP53	0.851	0.040	17	7673748	missense variant	T/C	snv	8.0E-06		5
rs779221554	GUCY2F	1.000	0.040	X	109430395	missense variant	C/A;T	snv			1
rs77724903	RET	0.672	0.280	10	43118460	missense variant	A/G;T	snv	4.0E-06; 2.1E-03		23
rs774238794	HDAC9	0.925	0.080	7	18644690	missense variant	G/A;T	snv	4.1E-05; 4.1E-06		2
rs7732320	SSBP2	0.925	0.040	5	81423306	intron variant	C/T	snv		0.22	2
rs771563543	ZEB1	0.851	0.040	10	31510841	missense variant	G/A	snv	4.0E-06	1.4E-05	5
rs770462360	CDC42BPG	1.000	0.040	11	64839070	missense variant	G/A	snv	2.0E-05		1
rs769809364	TP73	0.807	0.080	1	3732940	missense variant	G/A	snv	8.5E-06	1.4E-05	7
rs766265850	MIR4640 ; DDR1	0.851	0.040	6	30889239	missense variant	G/A	snv	8.1E-06	7.0E-06	4
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs76151636	ATP7B	0.776	0.280	13	51944145	missense variant	G/A;T	snv	4.0E-06; 9.2E-04		10
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs759927375	H4C1 ; H3C1	0.925	0.040	6	26020589	missense variant	G/A;C	snv	1.2E-05; 8.0E-06		2