DisGeNET - a database of gene-disease associations

List of associated variants

Astrocytoma, C0004114

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
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			7
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		12
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv			16
rs2305948	KDR	0.732	0.400	4	55113391	missense variant	C/A;T	snv	4.0E-06; 0.11		18
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv		0.53	26
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99