DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Glioblastoma, C0280474

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
rs1340827343	TCF19 ; POU5F1	0.851	0.040	6	31165259	missense variant	C/T	snv			4
rs2293157	STAT5A	0.763	0.120	17	42300657	intron variant	C/A;T	snv			9
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		58
rs74315452	SOD1	0.732	0.160	21	31667356	missense variant	T/C	snv			12
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs660118	SART1	0.807	0.080	11	65967703	missense variant	G/C	snv	0.46	0.36	6
rs3788266	S100B	0.732	0.160	21	46606442	upstream gene variant	G/A	snv		0.50	12
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
rs8057643	RBFOX1	0.851	0.040	16	6910689	intron variant	C/A;T	snv			4
rs1801320	RAD51 ; RAD51-AS1	0.742	0.160	15	40695330	5 prime UTR variant	G/C	snv		0.12	15
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs2904551	PRODH	0.776	0.160	22	18918421	missense variant	A/G	snv	5.2E-03	2.8E-03	8
rs200187877	PPARGC1A	0.851	0.040	4	23795829	missense variant	C/T	snv	8.0E-06	7.0E-06	4
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs572480837	POU5F1 ; TCF19	0.851	0.040	6	31165582	missense variant	T/A	snv	5.0E-04	8.4E-05	4
rs374524467	PITX2	0.827	0.040	4	110632961	missense variant	A/C	snv	8.0E-06	7.0E-06	5
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs498872	PHLDB1	0.776	0.240	11	118606652	5 prime UTR variant	A/G;T	snv			10
rs755794544	PDGFA	0.851	0.040	7	512435	missense variant	T/C	snv	4.0E-06		4
rs1957106	NFKBIA	0.851	0.040	14	35404564	synonymous variant	G/A	snv	0.28	0.25	4
rs28357681	ND6 ; CYTB	0.851	0.040	MT	14798	missense variant	T/C	snv			4
rs766265850	MIR4640 ; DDR1	0.851	0.040	6	30889239	missense variant	G/A	snv	8.1E-06	7.0E-06	4
rs16906252	MGMT	0.732	0.200	10	129467281	synonymous variant	C/T	snv	5.5E-02	5.1E-02	19
rs865880036	MEIS2	0.827	0.040	15	37098156	missense variant	A/C	snv	1.3E-04		5