DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Hepatoblastoma ×

Variants associated to the Gene: CTNNB1 ×

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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
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			17
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			14
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			13
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			10
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			9