DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colon Carcinoma ×

Variants associated to the Gene: BRAF ×

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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		484
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1238788540	BRAF	0.925	0.080	7	140800368	missense variant	G/C	snv	4.0E-06	7.0E-06	2