DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Astrocytoma, C4086152

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
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs6089953	RTEL1-TNFRSF6B ; RTEL1	0.882	0.080	20	63659655	intron variant	A/G	snv		0.82	3
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	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
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			3
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs17522122	AKAP6	0.925	0.040	14	32833676	3 prime UTR variant	G/T	snv		0.41	5
rs4261436	AKAP6	0.925	0.040	14	32830276	3 prime UTR variant	T/C	snv		0.43	3
rs1476157710	WNT10B	0.925	0.040	12	48970460	missense variant	T/C	snv	4.1E-06	1.4E-05	3
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
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
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480