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
rs2305948	KDR	0.732	0.400	4	55113391	missense variant	C/A;T	snv	4.0E-06; 0.11		18
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs2378456	LPP	0.807	0.200	3	188885218	3 prime UTR variant	C/G;T	snv			6
rs7115578	MAML2	0.882	0.040	11	96266936	intron variant	G/A	snv		0.37	3
rs2431689	MIR3142HG	0.882	0.040	5	160472115	intron variant	G/A	snv		0.17	3
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs3745601	P2RY11 ; PPAN-P2RY11	0.882	0.120	19	10113872	missense variant	G/A	snv	0.16	0.13	3
rs281865545	PECAM1	0.695	0.360	17	64377836	missense variant	C/G;T	snv			18
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
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
rs751857027	QTRT1	0.925	0.120	19	10707507	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs6089953	RTEL1-TNFRSF6B ; RTEL1	0.882	0.080	20	63659655	intron variant	A/G	snv		0.82	3
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	7
rs12594	RYR2	0.925	0.040	1	237833787	3 prime UTR variant	A/G	snv		0.28	2
rs16835904	RYR2	0.925	0.040	1	237833954	3 prime UTR variant	C/T	snv		0.17	2
rs867657798	TCF4	0.925	0.040	18	55631366	missense variant	G/A;C	snv	1.4E-05		3
rs868162712	TCF4	0.925	0.040	18	55279598	missense variant	G/A	snv			3
rs766727892	TCF7L2	0.925	0.040	10	113151107	missense variant	G/A	snv	1.2E-05	7.0E-06	3
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
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