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
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
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
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5
rs867657798	TCF4	0.925	0.040	18	55631366	missense variant	G/A;C	snv	1.4E-05		3
rs868162712	TCF4	0.925	0.040	18	55279598	missense variant	G/A	snv			3
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv		0.53	26
rs2305948	KDR	0.732	0.400	4	55113391	missense variant	C/A;T	snv	4.0E-06; 0.11		18
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25