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
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			10
rs1057519889	EP300	0.807	0.200	22	41169525	missense variant	G/A;T	snv			6
rs8136867	MAPK1	0.882	0.080	22	21850504	intron variant	G/A	snv		0.55	4
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs562625029	CBS	0.827	0.280	21	43058192	stop gained	G/A	snv			5
rs1308193541	CBS	1.000	0.040	21	43066312	missense variant	C/T	snv	4.0E-06		1
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06		22
rs3213180	E2F1 ; NECAB3	0.925	0.120	20	33675818	3 prime UTR variant	G/C	snv		7.6E-02	4
rs1257821596	AVP	1.000	0.040	20	3083027	frameshift variant	-/C	delins		7.0E-06	1
rs3213182	E2F1 ; NECAB3	1.000	0.040	20	33675427	upstream gene variant	A/C	snv		7.2E-02	1
rs3213183	E2F1 ; NECAB3	1.000	0.040	20	33675156	intron variant	G/A;C	snv			1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
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
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs1057519946	PPP2R1A	0.732	0.280	19	52212729	missense variant	C/G;T	snv			18