DisGeNET - a database of gene-disease associations

List of associated variants

Astrocytoma, C0004114

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
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			7
rs1476157710	WNT10B	0.925	0.040	12	48970460	missense variant	T/C	snv	4.1E-06	1.4E-05	3
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
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
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			18
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs58064122	GFAP	0.882	0.160	17	44913334	missense variant	G/A;C	snv			3