DisGeNET - a database of gene-disease associations

List of shared variants

Renal Cell Carcinoma, C0007134

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
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
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
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		24
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs1057520003	TP53	0.695	0.320	17	7675996	missense variant	T/G	snv			20
rs530941076	TP53	0.695	0.280	17	7674873	missense variant	A/C;G;T	snv	4.0E-06		20
rs483352697	TP53	0.695	0.480	17	7674944	missense variant	C/A;G;T	snv	4.0E-06		17