DisGeNET - a database of gene-disease associations

List of shared variants

Brain Neoplasms, C0006118

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			25
rs1057519926	PIK3CA	0.776	0.200	3	179210293	missense variant	A/T	snv			10
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057519933	PIK3CA	0.790	0.240	3	179199156	missense variant	A/G	snv			11
rs1057519934	PIK3CA	0.790	0.240	3	179199158	missense variant	G/C	snv			11
rs1057519935	PIK3CA	0.790	0.240	3	179199157	missense variant	A/G	snv			11
rs1057519936	PIK3CA	0.776	0.200	3	179234284	missense variant	A/G;T	snv			11
rs1057519937	PIK3CA	0.776	0.200	3	179234285	missense variant	T/C	snv			11
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv			13
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			16
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			14
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			17
rs1057519887	EGFR	0.925	0.040	7	55154128	missense variant	GC/AA;AT	mnv			3