DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma, C0007137

Disease: Esophageal 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
rs17761864	SMG6	1.000	0.040	17	2268343	intron variant	C/A	snv		0.28	2
rs2239612	ST6GAL1	1.000	0.040	3	187075454	intron variant	G/A	snv		0.17	2
rs2847281	PTPN2	1.000	0.040	18	12821594	intron variant	A/G	snv		0.32	3
rs4785204	HEATR3	1.000	0.040	16	50069823	intron variant	C/T	snv		8.6E-02	2
rs4822983	CHEK2	0.925	0.080	22	28719078	intron variant	C/T	snv		0.33	3
rs6503659		1.000	0.040	17	41741012	intergenic variant	A/C;G;T	snv			2
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116