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
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs12108497	PRIMPOL ; CASP3	0.851	0.080	4	184650403	intron variant	C/G;T	snv			6
rs75790006		0.851	0.040	4	43211547	intron variant	T/G	snv		1.1E-02	4
rs6819385	CHRNA9	0.925	0.080	4	40337557	intron variant	A/G	snv		0.52	2
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs11134527	MIR218-2 ; SLIT3	0.677	0.400	5	168768351	intron variant	G/A	snv		0.25	24
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs16891982	SLC45A2	0.776	0.200	5	33951588	missense variant	C/A;G	snv	0.65		13
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	12
rs26279	MSH3	0.790	0.160	5	80873118	missense variant	G/A	snv	0.73	0.70	9
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs35407	SLC45A2	0.807	0.080	5	33946466	3 prime UTR variant	A/C;G	snv			6
rs771590775	TERT	1.000	0.040	5	1294350	missense variant	C/A;G	snv			1
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38