DisGeNET - a database of gene-disease associations

List of shared variants

Esophageal carcinoma, C0152018

Disease: Malignant neoplasm of esophagus

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
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs12508222	FAT4	0.925	0.080	4	125449492	missense variant	G/A;T	snv	4.3E-02; 2.0E-05		3
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs13016963	FLACC1	0.851	0.080	2	201298088	intron variant	A/G	snv		0.59	5
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs1567047	FAT4	0.925	0.080	4	125451587	missense variant	G/A	snv	0.27	0.22	3
rs1595066	ERBB4	0.882	0.080	2	211377000	3 prime UTR variant	C/T	snv		0.28	4
rs16845990	ERBB4	0.882	0.080	2	211378286	3 prime UTR variant	T/A;C	snv			4
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs174538	TMEM258 ; MIR611 ; FEN1	0.701	0.440	11	61792609	5 prime UTR variant	G/A	snv	0.34	0.26	21
rs17728461	LOC105372988 ; HORMAD2	0.776	0.120	22	30202563	intron variant	C/G	snv		0.25	9
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
rs1800372	TP53	0.752	0.240	17	7674892	synonymous variant	T/A;C	snv	1.3E-02		15
rs1800477	BCL2	0.763	0.480	18	63318540	missense variant	C/T	snv	1.8E-02	4.9E-03	12