DisGeNET - a database of gene-disease associations

List of associated variants

Craniopharyngioma, C0010276

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			14
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			13
rs28931589	CTNNB1	0.695	0.240	3	41224613	missense variant	G/A;C;T	snv			13
rs121913399	CTNNB1	0.724	0.200	3	41224612	missense variant	G/A;C	snv			10
rs587779352	APC	0.882	0.120	5	112838774	frameshift variant	ACAAA/-	delins			5
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2