DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of the head and neck, C1168401

Disease: Malignant Neoplasms

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
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1380228918	ERCC2	1.000	0.040	19	45364065	synonymous variant	C/T	snv			3
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			15
rs1573496	ADH7	0.827	0.160	4	99428512	missense variant	C/G	snv	8.5E-02; 4.9E-04	7.8E-02	7
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			22
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151