DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Transitional cell carcinoma of bladder ×

Variants associated to the Gene: RHEB ×

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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
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