DisGeNET - a database of gene-disease associations

List of associated variants

Esophageal carcinoma, C0152018

Source: CLINVAR ×

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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
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	3
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		20
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	1
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs377767347	SMAD4	0.742	0.520	18	51065549	missense variant	G/A;C;T	snv			13
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			21
rs483352697	TP53	0.695	0.480	17	7674944	missense variant	C/A;G;T	snv	4.0E-06		17
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		15
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			14
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			26
rs786201838	TP53	0.683	0.440	17	7674953	missense variant	T/A;C;G	snv			23