DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma Multiforme, C1621958

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
rs764803020	TP53	0.851	0.040	17	7673750	frameshift variant	-/TTTCCGCCGG	delins	4.0E-06		5
rs781490101	TP53	0.851	0.040	17	7673748	missense variant	T/C	snv	8.0E-06		5
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs1801591	ETFA	0.882	0.040	15	76286421	missense variant	G/A	snv	7.4E-02	6.4E-02	4
rs12230172	LOC105369844	0.882	0.040	12	75848895	intron variant	A/G	snv		0.48	4
rs2562152	RHBDF1	0.882	0.040	16	73898	intron variant	A/T	snv		0.67	4
rs8057643	RBFOX1	0.851	0.040	16	6910689	intron variant	C/A;T	snv			4
rs1373481065	GADD45A	0.827	0.040	1	67687668	missense variant	A/G	snv	4.0E-06		6
rs1384093596	DYRK2	1.000	0.040	12	67657500	missense variant	C/T	snv			1
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs660118	SART1	0.807	0.080	11	65967703	missense variant	G/C	snv	0.46	0.36	6
rs770462360	CDC42BPG	1.000	0.040	11	64839070	missense variant	G/A	snv	2.0E-05		1
rs12752552	RAVER2	0.882	0.040	1	64763616	intron variant	T/C	snv		0.13	4
rs8957	SLC2A4RG	0.925	0.040	20	63742354	missense variant	G/T	snv	0.71	0.78	2
rs6062302	RTEL1 ; RTEL1-TNFRSF6B	0.882	0.040	20	63689615	synonymous variant	T/C	snv	0.74	0.81	4
rs2297440	RTEL1 ; RTEL1-TNFRSF6B	0.763	0.080	20	63680946	intron variant	T/C	snv		0.81	10
rs6010620	RTEL1 ; RTEL1-TNFRSF6B	0.701	0.360	20	63678486	intron variant	A/C;G	snv			21
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs753152604	CDK4	0.827	0.040	12	57751680	missense variant	C/A	snv			7
rs2440472	AMFR	0.827	0.080	16	56402912	intron variant	A/G	snv		0.61	5
rs373191257	AMFR	0.827	0.080	16	56363027	missense variant	T/A	snv	1.6E-05	7.0E-06	5
rs1346787	EFEMP1 ; LOC112268416	0.882	0.040	2	55865477	downstream gene variant	C/A;G;T	snv			3
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			18
rs9642393	EGFR	0.925	0.040	7	55177954	intron variant	T/C	snv		0.24	2