DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of lung, C0149782

Disease: Uterine Cervical Neoplasm

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	Num. diseases
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv		37
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05	35
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06	34
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv		30
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv		28
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06	25
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv		23
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv		23
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		21
rs753660142	TP53	0.708	0.280	17	7673782	missense variant	T/C;G	snv	1.6E-05	19
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv		18
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv		18
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06	17
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv		17
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv		16
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv		14
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06	14
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		12
rs398124146	CREBBP	0.742	0.360	16	3738617	missense variant	G/A;C	snv		12
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv		12
rs747241612	FBXW7	0.752	0.240	4	152326215	missense variant	G/C	snv	4.0E-06	12
rs866987936	FBXW7	0.752	0.240	4	152326214	missense variant	C/A;G;T	snv		12