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
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
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
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
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
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
rs1476157710	WNT10B	0.925	0.040	12	48970460	missense variant	T/C	snv	4.1E-06	1.4E-05	3
rs9288516	XRCC5	0.827	0.120	2	216188541	intron variant	T/A	snv		5.0E-02	6
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5