DisGeNET - a database of gene-disease associations

List of associated variants

Medulloblastoma, C0025149

Source: CLINVAR ×

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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			20
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			17
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv			16
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			15
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		15
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			14
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			14
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		14
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			14
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			13
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			13