DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal Carcinoma ×

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
rs4135385	CTNNB1	0.742	0.320	3	41237949	non coding transcript exon variant	A/G	snv		0.19	14
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			10
rs1233296947	CTNNB1	0.851	0.080	3	41225746	missense variant	G/A	snv	4.0E-06		5
rs370662884	CTNNB1	0.925	0.080	3	41225816	synonymous variant	G/A	snv	3.2E-05	4.9E-05	3
rs13072632	CTNNB1	0.925	0.080	3	41220953	5 prime UTR variant	T/C	snv		0.41	2
rs139085081	CTNNB1	1.000	0.080	3	41225436	missense variant	C/T	snv		1.4E-05	1