DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of lung, C0149782

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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
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
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			17
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
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv			11
rs1057519883	CDKN2A	0.742	0.280	9	21971120	missense variant	C/G;T	snv			14
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs1057519986	TP53	0.776	0.240	17	7673811	missense variant	A/C;G	snv			10
rs1057519987	TP53	0.776	0.280	17	7673810	missense variant	A/C	snv			10
rs1057519988	TP53	0.776	0.240	17	7673812	missense variant	A/C;G;T	snv			10
rs1057519989	TP53	0.732	0.240	17	7674233	missense variant	C/A;G;T	snv			17
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs1057519992	TP53	0.742	0.400	17	7674890	missense variant	T/A;C;G	snv			14