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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs1040177874	IDH1	0.925	0.040	2	208239914	missense variant	G/A	snv	4.0E-06		2
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			3
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
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
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
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
rs5050	AGT	0.827	0.200	1	230714140	intron variant	T/C;G	snv			7
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5