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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			17
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1057519887	EGFR	0.925	0.040	7	55154128	missense variant	GC/AA;AT	mnv			3
rs769696078	EGFR	0.925	0.040	7	55154128	missense variant	G/A	snv			3
rs149840192	EGFR	0.807	0.080	7	55154129	missense variant	C/A;T	snv			7
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1057519985	TP53	0.724	0.360	17	7673763	missense variant	T/A;C;G	snv			16
rs786201059	TP53	0.701	0.360	17	7673764	stop gained	C/A;G;T	snv			20
rs730882008	TP53	0.683	0.440	17	7673775	missense variant	C/A;G;T	snv	4.0E-06		23
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		31
rs587781525	TP53	0.689	0.480	17	7673778	missense variant	T/A;C;G	snv			22
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs753660142	TP53	0.708	0.280	17	7673782	missense variant	T/C;G	snv	1.6E-05		19
rs876659802	TP53	0.732	0.440	17	7673787	missense variant	G/A;C;T	snv			16
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			22
rs863224451	TP53	0.701	0.440	17	7673796	missense variant	C/A;G;T	snv			20