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
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1057519896	FBXW7	0.742	0.320	4	152326136	missense variant	C/A;T	snv			12
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			15
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			17
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			14
rs770248150	KRAS	0.807	0.240	12	25225713	missense variant	T/A;G	snv	4.0E-06		7
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs1057519886	CTNNB1	0.752	0.240	3	41224609	missense variant	T/A;C;G	snv			11
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs1057519953	RHOA	0.807	0.200	3	49375576	missense variant	C/A;T	snv			8
rs1057519952	RHOA	0.882	0.160	3	49375577	missense variant	G/A	snv			5
rs80338963	SMAD4	0.776	0.280	18	51065548	missense variant	C/A;G;T	snv			11