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
rs17522122	AKAP6	0.925	0.040	14	32833676	3 prime UTR variant	G/T	snv		0.41	5
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs1476157710	WNT10B	0.925	0.040	12	48970460	missense variant	T/C	snv	4.1E-06	1.4E-05	3
rs2431689	MIR3142HG	0.882	0.040	5	160472115	intron variant	G/A	snv		0.17	3
rs4261436	AKAP6	0.925	0.040	14	32830276	3 prime UTR variant	T/C	snv		0.43	3
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
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
rs1040177874	IDH1	0.925	0.040	2	208239914	missense variant	G/A	snv	4.0E-06		2
rs12594	RYR2	0.925	0.040	1	237833787	3 prime UTR variant	A/G	snv		0.28	2
rs16835904	RYR2	0.925	0.040	1	237833954	3 prime UTR variant	C/T	snv		0.17	2
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5
rs6089953	RTEL1-TNFRSF6B ; RTEL1	0.882	0.080	20	63659655	intron variant	A/G	snv		0.82	3
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs9288516	XRCC5	0.827	0.120	2	216188541	intron variant	T/A	snv		5.0E-02	6
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	3
rs751857027	QTRT1	0.925	0.120	19	10707507	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6