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
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs2305948	KDR	0.732	0.400	4	55113391	missense variant	C/A;T	snv	4.0E-06; 0.11		18
rs2378456	LPP	0.807	0.200	3	188885218	3 prime UTR variant	C/G;T	snv			6
rs2431689	MIR3142HG	0.882	0.040	5	160472115	intron variant	G/A	snv		0.17	3
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	3
rs4261436	AKAP6	0.925	0.040	14	32830276	3 prime UTR variant	T/C	snv		0.43	3
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs5050	AGT	0.827	0.200	1	230714140	intron variant	T/C;G	snv			7
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			3
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs6089953	RTEL1-TNFRSF6B ; RTEL1	0.882	0.080	20	63659655	intron variant	A/G	snv		0.82	3
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs751857027	QTRT1	0.925	0.120	19	10707507	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7