DisGeNET - a database of gene-disease associations

List of shared variants

Renal Cell Carcinoma, C0007134

Disease: Papillary renal cell carcinoma, sporadic

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
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
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs530941076	TP53	0.695	0.280	17	7674873	missense variant	A/C;G;T	snv	4.0E-06		20
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs1057519949	RHEB	0.851	0.120	7	151490964	missense variant	A/T	snv			4
rs1057519950	RHEB	0.827	0.200	7	151490963	missense variant	T/A;C	snv			4