DisGeNET - a database of gene-disease associations

List of associated variants

Astrocytoma, C0004114

Source: CLINVAR ×

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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		22
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			13
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		7
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv			7
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			7
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06		6
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			6
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		3
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	3
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			2
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	2
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			1
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1