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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			24
rs397516896	BRAF	0.763	0.360	7	140753355	missense variant	C/G;T	snv			11
rs1057519887	EGFR	0.925	0.040	7	55154128	missense variant	GC/AA;AT	mnv			3
rs149840192	EGFR	0.807	0.080	7	55154129	missense variant	C/A;T	snv			7
rs769696078	EGFR	0.925	0.040	7	55154128	missense variant	G/A	snv			3
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			17
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
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