DisGeNET - a database of gene-disease associations

List of shared variants

Colorectal Neoplasms, C0009404

Disease: Esophageal carcinoma

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
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	23
rs730882008	TP53	0.683	0.440	17	7673775	missense variant	C/A;G;T	snv	4.0E-06		23
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06		24
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs786201838	TP53	0.683	0.440	17	7674953	missense variant	T/A;C;G	snv			24
rs876658468	TP53	0.689	0.440	17	7674954	missense variant	G/A;C;T	snv			24
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		28
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		28
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		31
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06		31
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			37
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42