DisGeNET - a database of gene-disease associations

List of shared variants

Medulloblastoma, C0025149

Disease: Squamous cell carcinoma of the head and neck

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv			23
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			17
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			17
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			16
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv			13
rs121913399	CTNNB1	0.724	0.200	3	41224612	missense variant	G/A;C	snv			13
rs876660333	TP53	0.742	0.360	17	7673805	missense variant	A/C;G;T	snv			13
rs398124146	CREBBP	0.742	0.360	16	3738617	missense variant	G/A;C	snv			12
rs1057519884	CREBBP	0.752	0.240	16	3738616	missense variant	C/A;T	snv			11