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
rs1476157710	WNT10B	0.925	0.040	12	48970460	missense variant	T/C	snv	4.1E-06	1.4E-05	3
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	3
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			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
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs2378456	LPP	0.807	0.200	3	188885218	3 prime UTR variant	C/G;T	snv			6
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
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
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5