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	AF GENOME	Num. diseases
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs11016879	MGMT	0.882	0.040	10	129691518	intron variant	A/C;G	snv		0.66	4
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv			13
rs139994842	NOTCH1	0.925	0.040	9	136508308	missense variant	G/A;C	snv	1.5E-03		3
rs3136038	ERCC4	0.763	0.200	16	13919522	upstream gene variant	C/T	snv		0.36	13
rs1799801	ERCC4	0.807	0.360	16	13948101	synonymous variant	T/C	snv	0.27	0.25	9
rs2276466	ERCC4	0.732	0.320	16	13949318	3 prime UTR variant	C/A;G	snv			15
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
rs121913351	BRAF	0.776	0.240	7	140781611	missense variant	C/A;G;T	snv	4.0E-06		9
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs757503234	XPC	1.000	0.040	3	14158838	missense variant	T/C	snv			1
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs1057519896	FBXW7	0.742	0.320	4	152326136	missense variant	C/A;T	snv			12
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			15
rs866987936	FBXW7	0.752	0.240	4	152326214	missense variant	C/A;G;T	snv			12
rs747241612	FBXW7	0.752	0.240	4	152326215	missense variant	G/C	snv	4.0E-06		12
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			17
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193