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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs866419664	TP53	0.882	0.040	17	7673821	frameshift variant	-/TCCCA	delins			5
rs71305152	ZFPM2	0.882	0.040	8	105437494	intron variant	-/TTTTCT	delins		0.43	5
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			7
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv		0.53	26
rs6089953	RTEL1-TNFRSF6B ; RTEL1	0.882	0.080	20	63659655	intron variant	A/G	snv		0.82	3
rs12594	RYR2	0.925	0.040	1	237833787	3 prime UTR variant	A/G	snv		0.28	2
rs1057519903	H3-3A	0.683	0.080	1	226064434	missense variant	A/T	snv			28
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs2305948	KDR	0.732	0.400	4	55113391	missense variant	C/A;T	snv	4.0E-06; 0.11		18
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	10
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06		6
rs2378456	LPP	0.807	0.200	3	188885218	3 prime UTR variant	C/G;T	snv			6
rs751857027	QTRT1	0.925	0.120	19	10707507	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs16835904	RYR2	0.925	0.040	1	237833954	3 prime UTR variant	C/T	snv		0.17	2