DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cutaneous Melanoma ×

Variants associated to the Gene: CTNNB1 ×

Results per page

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
rs1057519886	CTNNB1	0.752	0.240	3	41224609	missense variant	T/A;C;G	snv			11
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			11
rs121913399	CTNNB1	0.724	0.200	3	41224612	missense variant	G/A;C	snv			10
rs121913407	CTNNB1	0.763	0.240	3	41224645	missense variant	T/C;G	snv			10
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
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			9