DisGeNET - a database of gene-disease associations

List of associated variants

Central Nervous System Neoplasms, C0085136

Source: GWASDB ×

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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
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	9
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	6
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	5
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			4
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	4
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			4
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	3
rs4809324	RTEL1 ; RTEL1-TNFRSF6B	0.807	0.200	20	63686867	non coding transcript exon variant	T/C	snv		8.8E-02	3
rs12088062		1.000	0.040	1	244811284	intergenic variant	C/T	snv		0.20	2
rs1409785		1.000	0.040	1	74782438	intergenic variant	G/A	snv		0.65	2
rs16838813		1.000	0.040	1	4364085	intergenic variant	G/A;T	snv		0.11	2
rs17110757	ACOT11	1.000	0.040	1	54584133	intron variant	G/A	snv		0.20	2
rs4295627	CCDC26	0.763	0.200	8	129673211	intron variant	T/G	snv		0.17	2
rs891835	CCDC26	0.851	0.120	8	129479506	intron variant	T/G	snv		0.17	2
rs634537	CDKN2B-AS1	0.851	0.080	9	22032153	intron variant	T/G	snv		0.28	2
rs12021720	DBT	0.925	0.160	1	100206504	missense variant	T/A;C	snv	0.92		2
rs12125049	LINC02778 ; LOC105378761	1.000	0.040	1	60202030	intergenic variant	C/T	snv		0.12	2
rs11583706	LOC105373220	1.000	0.040	1	238358337	intron variant	G/T	snv		0.17	2
rs10924303	LOC105373265 ; KIF26B	1.000	0.040	1	245683732	intron variant	C/T	snv		0.15	2
rs11163687	LOC107985037	1.000	0.040	1	83199436	intergenic variant	A/G	snv		9.6E-02	2
rs1920116	LRRC31	0.882	0.040	3	169862183	intron variant	G/A	snv		0.25	2
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			2
rs10494090	SLC25A24	1.000	0.040	1	108150714	intron variant	A/C;G;T	snv			2
rs11166389	SLC35A3 ; RNU6-1318P	1.000	0.040	1	100000723	non coding transcript exon variant	G/A	snv		0.15	2
rs10924690	SMYD3	1.000	0.040	1	246320481	intron variant	G/A	snv		0.20	2