DisGeNET - a database of gene-disease associations

List of associated variants

Glioblastoma, C0017636

Source: ALL

Results per page

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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs11554137	IDH1	0.742	0.040	2	208248468	synonymous variant	G/A	snv	5.1E-02	6.8E-02	13
rs63750949	FBXO11 ; MSH6	0.827	0.080	2	47806213	missense variant	C/A;T	snv			6
rs1057519919	MYCNOS ; MYCN	0.851	0.160	2	15942195	missense variant	C/T	snv			5
rs1200941109	MYCN ; MYCNOS	0.882	0.040	2	15940679	frameshift variant	C/-;CC	delins			4
rs863225401	MSH6 ; FBXO11	0.925	0.040	2	47799866	stop gained	G/A	snv			4
rs1346787	EFEMP1 ; LOC112268416	0.882	0.040	2	55865477	downstream gene variant	C/A;G;T	snv			3
rs879254044	MSH2	0.925	0.040	2	47475148	missense variant	G/A;C;T	snv			3
rs1558650888	DNMT3A	0.925	0.040	2	25234308	missense variant	G/A	snv			2
rs1558518449	MSH2	1.000	0.040	2	47475221	frameshift variant	ATGACGTA/-	delins			1
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			25
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			16
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16