DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of the head and neck, C1168401

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	Num. diseases
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06	51
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv		48
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59	46
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv		45
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05	44
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv		44
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	44
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05	42
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06	41
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05	41
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06	40
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28	38
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv		37
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv		37
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv		37
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv		34
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06	34
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv		33
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv		32
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv		32
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05	31
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29	31
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06	31
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06	31