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
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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs5050	AGT	0.827	0.200	1	230714140	intron variant	T/C;G	snv			7
rs773442580	EGF	0.851	0.080	4	109913367	missense variant	T/C;G	snv	4.0E-06		7
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
rs9288516	XRCC5	0.827	0.120	2	216188541	intron variant	T/A	snv		5.0E-02	6
rs2271338	ADGRL3	0.827	0.080	4	61996533	intron variant	G/A	snv		0.26	5
rs17522122	AKAP6	0.925	0.040	14	32833676	3 prime UTR variant	G/T	snv		0.41	5
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5