DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma, C0007137

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
rs1042602	LOC107984363 ; TYR	0.925	0.080	11	89178528	missense variant	C/A	snv	0.25	0.24	6
rs17761864	SMG6	1.000	0.040	17	2268343	intron variant	C/A	snv		0.28	2
rs7097008		1.000	0.040	10	67849782	non coding transcript exon variant	C/A	snv		0.60	1
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs1048638	CA9	0.807	0.160	9	35681125	3 prime UTR variant	C/A;G	snv			10
rs6413464	CDKN2A	1.000	0.040	9	21970980	missense variant	C/A;G	snv	1.3E-03; 4.1E-06		2
rs771590775	TERT	1.000	0.040	5	1294350	missense variant	C/A;G	snv			1
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;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
rs1805007	MC1R	0.695	0.280	16	89919709	missense variant	C/A;G;T	snv	4.4E-02		25
rs58330629	KRT14	0.851	0.120	17	41586461	missense variant	C/A;G;T	snv			4
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs4645978	CASP9 ; DNAJC16	0.827	0.120	1	15525539	intron variant	C/A;T	snv			8
rs2299939	PTEN	0.827	0.080	10	87897393	intron variant	C/A;T	snv			5
rs587783064	TP53	0.851	0.120	17	7669626	missense variant	C/A;T	snv			5
rs201125580	LOC100507346 ; PTCH1	1.000	0.040	9	95467191	missense variant	C/A;T	snv	4.0E-06; 3.8E-04		1
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs281432	ICAM1	0.851	0.280	19	10279982	intron variant	C/G	snv		0.52	12
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9
rs3660	KRT86 ; KRT81	0.882	0.160	12	52286153	3 prime UTR variant	C/G	snv		0.51	6