DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal 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
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		23
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			14
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			7
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			5
rs1370423184	BRAF	1.000	0.080	7	140778018	missense variant	G/C	snv	4.0E-06		1