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
rs1057519995	TP53	0.807	0.240	17	7674200	missense variant	T/A	snv			9
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs1057520003	TP53	0.695	0.320	17	7675996	missense variant	T/G	snv			20
rs1057520007	TP53	0.701	0.440	17	7674917	missense variant	T/A;C;G	snv			21
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912580	SMAD4	0.807	0.280	18	51067036	missense variant	G/A;C;T	snv			7
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		28
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
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		44
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs148924904	TP53	0.724	0.360	17	7675124	missense variant	T/C	snv		7.0E-06	17
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			15
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			22
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs193920774	TP53	0.695	0.440	17	7673823	missense variant	C/A;T	snv			22
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