DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of esophagus, C0279626

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
rs2399395	PLCXD2	1.000	0.080	3	111714647	intron variant	T/C	snv		0.96	1
rs4359426	CCL22	0.925	0.120	16	57358821	missense variant	A/C;T	snv	0.92	0.94	3
rs911178	ZBED9	0.925	0.120	6	28606638	intron variant	T/C	snv		0.89	2
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs7372209	CTDSPL ; MIR26A1	0.807	0.160	3	37969217	intron variant	T/C	snv		0.77	7
rs2014300	RUNX1	0.851	0.080	21	34985564	intron variant	A/G;T	snv		0.75	5
rs2289519	SERPINB5	1.000	0.080	18	63493054	missense variant	T/C	snv	0.66	0.72	1
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2070999	NQO2 ; NQO2-AS1	1.000	0.080	6	2999495	non coding transcript exon variant	A/G	snv		0.70	1
rs6588147	LEPR	0.851	0.080	1	65469811	intron variant	G/A	snv		0.70	4
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs4846048	MTHFR ; C1orf167	0.752	0.280	1	11786195	3 prime UTR variant	G/A	snv		0.67	10
rs762551	CYP1A2	0.701	0.400	15	74749576	intron variant	C/A	snv		0.67	23
rs7003908	PRKDC	0.716	0.320	8	47858141	intron variant	C/A	snv		0.66	16
rs664677	ATM	0.807	0.160	11	108272455	intron variant	C/A;T	snv		0.65	8
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs4462560	NEIL1 ; MIR631 ; MAN2C1	0.851	0.080	15	75355623	3 prime UTR variant	G/C	snv		0.64	5
rs4711998	IL17A	0.708	0.360	6	52185555	upstream gene variant	A/G	snv		0.64	16