DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of the head and neck, C1168401

Disease: Small cell carcinoma of lung

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	AF GENOME	Num. diseases
rs1023835002	B2M ; PATL2	0.763	0.280	15	44711547	start lost	A/G;T	snv			10
rs1057519877	B2M ; PATL2	0.763	0.280	15	44711549	start lost	G/A	snv			10
rs1057519879	PATL2 ; B2M	0.763	0.280	15	44711548	start lost	T/C;G	snv			10
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			18
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
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
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			17
rs1057519985	TP53	0.724	0.360	17	7673763	missense variant	T/A;C;G	snv			15
rs1057519989	TP53	0.732	0.240	17	7674233	missense variant	C/A;G;T	snv			15
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		19
rs1057520003	TP53	0.695	0.320	17	7675996	missense variant	T/G	snv			20
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			18
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		24
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs148924904	TP53	0.724	0.360	17	7675124	missense variant	T/C	snv		7.0E-06	17
rs193920774	TP53	0.695	0.440	17	7673823	missense variant	C/A;T	snv			21
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs483352697	TP53	0.695	0.480	17	7674944	missense variant	C/A;G;T	snv	4.0E-06		17
rs530941076	TP53	0.695	0.280	17	7674873	missense variant	A/C;G;T	snv	4.0E-06		20